#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
POLR3B	55703	broad.mit.edu	37	12	106772092	106772092	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:106772092G>C	ENST00000228347.4	+	8	766	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	POLR3B_ENST00000539066.1_Missense_Mutation_p.E124Q	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	182					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.E182*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCTTATCCAAGAGCAGCTGTC	0.418																																						ENST00000228347.4																			1	Substitution - Nonsense(1)	p.E182*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(544-546)Gag>Cag		polymerase (RNA) III (DNA directed) polypeptide B							148.0	141.0	143.0					12																	106772092		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106772092G>C	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.544G>C	12.37:g.106772092G>C	ENSP00000228347:p.Glu182Gln		Somatic				POLR3B_ENST00000539066.1_Missense_Mutation_p.E124Q	p.E182Q	NM_018082.5	NP_060552.4	WXS	Illumina GAIIx	Phase_I	Q9NW08	RPC2_HUMAN			8	766	+			182					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.544G>C	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058319	0.93846	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.68025	-0.3;-0.3	5.73	5.73	0.89815	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.89434	0.6714	H	0.97874	4.095	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.92866	0.6310	10	0.87932	D	0	-13.7127	19.49	0.95047	0.0:0.0:1.0:0.0	.	182	Q9NW08	RPC2_HUMAN	Q	182;182;124	ENSP00000228347:E182Q;ENSP00000445721:E124Q	ENSP00000228347:E182Q	E	+	1	0	POLR3B	105296222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.703000	0.98714	2.704000	0.92352	0.650000	0.86243	GAG		0.418	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		25	122	0	0	0	1	0	25	122				
SLC2A4RG	56731	broad.mit.edu	37	20	62373565	62373565	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:62373565T>C	ENST00000266077.2	+	5	714	c.662T>C	c.(661-663)aTc>aCc	p.I221T	RP4-583P15.10_ENST00000447343.2_RNA|SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGAGACACATCCGCCTGGTG	0.706																																						ENST00000266077.2																			0				NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7						c.(661-663)aTc>aCc		SLC2A4 regulator							18.0	22.0	21.0					20																	62373565		2173	4280	6453	SO:0001583	missense	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62373565T>C	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.662T>C	20.37:g.62373565T>C	ENSP00000266077:p.Ile221Thr		Somatic				SLC2A4RG_ENST00000493772.1_3'UTR	p.I221T	NM_020062.3	NP_064446.2	WXS	Illumina GAIIx	Phase_I	Q9NR83	S2A4R_HUMAN			5	714	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		221					Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	37	c.662T>C	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290426	0.59976	.	.	ENSG00000125520	ENST00000266077	T	0.69926	-0.44	3.7	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	U	0.000212	T	0.69531	0.3121	M	0.78456	2.415	0.35357	D	0.787887	P;P	0.50819	0.939;0.886	P;P	0.48425	0.577;0.577	T	0.75320	-0.3359	10	0.87932	D	0	.	8.1997	0.31417	0.0:0.0:0.2879:0.7121	.	116;221	Q2PHL5;Q9NR83	.;S2A4R_HUMAN	T	221	ENSP00000266077:I221T	ENSP00000266077:I221T	I	+	2	0	SLC2A4RG	61844009	1.000000	0.71417	0.995000	0.50966	0.769000	0.43574	2.456000	0.44997	0.166000	0.19597	0.260000	0.18958	ATC		0.706	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		2	1	0	0	0	1	0	2	1				
ATXN10	25814	broad.mit.edu	37	22	46202837	46202837	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:46202837A>T	ENST00000252934.5	+	10	1438		c.e10-1		ATXN10_ENST00000381061.4_Splice_Site|ATXN10_ENST00000402380.3_Splice_Site	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10						cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTTTCTCTCTAGGTAAATGAG	0.383																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.e10-1		ataxin 10							214.0	181.0	192.0					22																	46202837		2203	4300	6503	SO:0001630	splice_region_variant	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46202837A>T	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1174-1A>T	22.37:g.46202837A>T			Somatic				ATXN10_ENST00000381061.4_Splice_Site|ATXN10_ENST00000402380.3_Splice_Site		NM_013236.3	NP_037368.1	WXS	Illumina GAIIx	Phase_I	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	10	1438	+		Ovarian(80;0.00973)|all_neural(38;0.0417)						A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Splice_Site	SNP	ENST00000252934.5	37		CCDS14070.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.208105	0.58343	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011;ENST00000435026;ENST00000451241;ENST00000402380	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6576	0.51328	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATXN10	44581501	0.996000	0.38824	0.823000	0.32752	0.731000	0.41821	4.446000	0.60014	2.003000	0.58678	0.533000	0.62120	.		0.383	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236	Intron	6	273	0	0	0	1	0	6	273				
TMPRSS11E	28983	broad.mit.edu	37	4	69344565	69344565	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:69344565A>T	ENST00000305363.4	+	9	1031		c.e9-1			NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E						cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTTTCTTTTAGGTTACAGTC	0.353																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.e9-1		transmembrane protease, serine 11E							94.0	94.0	94.0					4																	69344565		2203	4299	6502	SO:0001630	splice_region_variant	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344565A>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.968-1A>T	4.37:g.69344565A>T			Somatic						NM_014058.3	NP_054777.2	WXS	Illumina GAIIx	Phase_I	Q9UL52	TM11E_HUMAN			9	1031	+								A6NL71|Q14DC8|Q6UW31	Splice_Site	SNP	ENST00000305363.4	37		CCDS33993.1	.	.	.	.	.	.	.	.	.	.	A	9.714	1.157883	0.21454	.	.	ENSG00000087128	ENST00000305363	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5026	0.61467	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMPRSS11E	69027160	1.000000	0.71417	0.438000	0.26821	0.003000	0.03518	7.151000	0.77411	2.133000	0.65898	0.533000	0.62120	.		0.353	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058	Intron	12	247	0	0	0	1	0	12	247				
TUBB4A	10382	broad.mit.edu	37	19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R380L(1)									CTCGGAGATGCGCTTGAACAG	0.637																																						ENST00000264071.2																			1	Substitution - Missense(1)	p.R380L(1)	lung(1)								c.(1138-1140)cGc>cAc		tubulin, beta 4A class IVa							156.0	141.0	146.0					19																	6495371		2203	4298	6501	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495371C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1139G>A	19.37:g.6495371C>T	ENSP00000264071:p.Arg380His		Somatic				TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H	p.R380H			WXS	Illumina GAIIx	Phase_I	P04350	TBB4_HUMAN			4	1510	-			380					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1139G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189398	0.57909	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.83673	-1.75;-1.75	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.88187	0.6369	M	0.91818	3.245	0.58432	D	0.999991	P	0.48764	0.915	P	0.47118	0.538	D	0.91052	0.4879	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	380	P04350	TBB4A_HUMAN	H	380;380;298	ENSP00000264071:R380H;ENSP00000443590:R380H	ENSP00000264071:R380H	R	-	2	0	TUBB4	6446371	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.681000	0.84073	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		7	1170	0	0	0	1	0	7	1170				
IKZF1	10320	broad.mit.edu	37	7	50467916	50467916	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:50467916C>T	ENST00000331340.3	+	8	1306	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	IKZF1_ENST00000359197.5_Missense_Mutation_p.S342L|IKZF1_ENST00000439701.1_Missense_Mutation_p.S342L|IKZF1_ENST00000343574.5_Missense_Mutation_p.S297L|IKZF1_ENST00000346667.4_Missense_Mutation_p.S154L|IKZF1_ENST00000438033.1_Missense_Mutation_p.S297L|IKZF1_ENST00000349824.4_Missense_Mutation_p.S241L|IKZF1_ENST00000357364.4_Missense_Mutation_p.S297L|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	384					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.S384*(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TTGGTGCCCTCGGAGCGCGAG	0.667			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		29	Unknown(28)|Substitution - Nonsense(1)	p.?(28)|p.S384*(1)	haematopoietic_and_lymphoid_tissue(28)|lung(1)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1150-1152)tCg>tTg		IKAROS family zinc finger 1 (Ikaros)							16.0	21.0	19.0					7																	50467916		2068	4190	6258	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467916C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1151C>T	7.37:g.50467916C>T	ENSP00000331614:p.Ser384Leu		Somatic				IKZF1_ENST00000343574.5_Missense_Mutation_p.S297L|IKZF1_ENST00000438033.1_Missense_Mutation_p.S297L|IKZF1_ENST00000346667.4_Missense_Mutation_p.S154L|IKZF1_ENST00000439701.1_Missense_Mutation_p.S342L|IKZF1_ENST00000349824.4_Missense_Mutation_p.S241L|IKZF1_ENST00000357364.4_Missense_Mutation_p.S297L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.S342L	p.S384L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	WXS	Illumina GAIIx	Phase_I	Q13422	IKZF1_HUMAN			8	1306	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	384					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1151C>T		.	.	.	.	.	.	.	.	.	.	C	15.90	2.970725	0.53614	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.06849	4.63;3.25;3.31;4.36;3.42;3.32;3.25;3.31	5.65	5.65	0.86999	.	0.269693	0.43747	D	0.000533	T	0.17323	0.0416	.	.	.	0.80722	D	1	P;P;P;P;P	0.48589	0.833;0.912;0.903;0.903;0.743	P;B;P;P;B	0.46940	0.532;0.242;0.475;0.475;0.231	T	0.00133	-1.2010	9	0.62326	D	0.03	-18.7428	19.7107	0.96095	0.0:1.0:0.0:0.0	.	297;154;297;342;384	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	L	154;297;342;241;297;384;297;342	ENSP00000340080:S154L;ENSP00000342750:S297L;ENSP00000352123:S342L;ENSP00000342485:S241L;ENSP00000349928:S297L;ENSP00000331614:S384L;ENSP00000396554:S297L;ENSP00000413025:S342L	ENSP00000331614:S384L	S	+	2	0	IKZF1	50435410	0.999000	0.42202	0.066000	0.19879	0.753000	0.42808	4.589000	0.61006	2.659000	0.90383	0.585000	0.79938	TCG		0.667	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		11	43	0	0	0	1	0	11	43				
PRKAA2	5563	broad.mit.edu	37	1	57140052	57140052	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:57140052A>T	ENST00000371244.4	+	2	160		c.e2-1			NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit						autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TCTTTTCTTTAGTTGGAGAAC	0.313																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.e2-1		protein kinase, AMP-activated, alpha 2 catalytic subunit							54.0	60.0	58.0					1																	57140052		2200	4289	6489	SO:0001630	splice_region_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57140052A>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.95-1A>T	1.37:g.57140052A>T			Somatic						NM_006252.3	NP_006243.2	WXS	Illumina GAIIx	Phase_I	P54646	AAPK2_HUMAN			2	160	+								Q9H1E8|Q9UD43	Splice_Site	SNP	ENST00000371244.4	37		CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582841	0.65992	.	.	ENSG00000162409	ENST00000371244	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8369	0.78805	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAA2	56912640	1.000000	0.71417	0.963000	0.40424	0.695000	0.40330	8.883000	0.92426	2.200000	0.70718	0.529000	0.55759	.		0.313	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	Intron	5	91	0	0	0	1	0	5	91				
SH3RF3	344558	broad.mit.edu	37	2	109964318	109964318	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:109964318G>T	ENST00000309415.6	+	2	762	c.762G>T	c.(760-762)ttG>ttT	p.L254F		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	254							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCAGCCCTTGCCACACGCCC	0.577																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(760-762)ttG>ttT		SH3 domain containing ring finger 3							41.0	47.0	45.0					2																	109964318		2101	4221	6322	SO:0001583	missense	344558						zinc ion binding	g.chr2:109964318G>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.762G>T	2.37:g.109964318G>T	ENSP00000309186:p.Leu254Phe		Somatic					p.L254F	NM_001099289.1	NP_001092759.1	WXS	Illumina GAIIx	Phase_I	Q8TEJ3	SH3R3_HUMAN			2	762	+			254					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.762G>T		.	.	.	.	.	.	.	.	.	.	G	12.91	2.079323	0.36662	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.31769	1.48;1.48	5.06	3.97	0.46021	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.40062	D	0.975905	D	0.76494	0.999	D	0.76071	0.987	T	0.45411	-0.9263	8	0.48119	T	0.1	.	6.1418	0.20263	0.0883:0.1432:0.6383:0.1302	.	254	Q8TEJ3	SH3R3_HUMAN	F	254	ENSP00000414997:L254F;ENSP00000309186:L254F	ENSP00000309186:L254F	L	+	3	2	SH3RF3	109330750	0.989000	0.36119	0.953000	0.39169	0.175000	0.22909	1.114000	0.31196	2.335000	0.79485	0.555000	0.69702	TTG		0.577	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		6	79	1	0	1.5842e-08	1	1.65964e-08	6	79				
GPR112	139378	broad.mit.edu	37	X	135405198	135405198	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:135405198G>A	ENST00000394143.1	+	5	623	c.332G>A	c.(331-333)cGt>cAt	p.R111H	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.R48H|GPR112_ENST00000370652.1_Missense_Mutation_p.R111H|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	111					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTATCCGTCACCACCTG	0.433																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(331-333)cGt>cAt		G protein-coupled receptor 112							177.0	159.0	165.0					X																	135405198		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405198G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.332G>A	X.37:g.135405198G>A	ENSP00000377699:p.Arg111His		Somatic				GPR112_ENST00000287534.4_Missense_Mutation_p.R48H|GPR112_ENST00000370652.1_Missense_Mutation_p.R111H|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron	p.R111H	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			5	623	+	Acute lymphoblastic leukemia(192;0.000127)		111					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.332G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539240	0.13250	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.63255	-0.03;-0.03;-0.03	5.62	-10.1	0.00402	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.46483	0.1395	L	0.43152	1.355	0.09310	N	1	B	0.15930	0.015	B	0.06405	0.002	T	0.42464	-0.9450	9	0.59425	D	0.04	.	9.5035	0.39033	0.5617:0.2443:0.194:0.0	.	111	Q8IZF6	GP112_HUMAN	H	111;111;48	ENSP00000377699:R111H;ENSP00000359686:R111H;ENSP00000287534:R48H	ENSP00000287534:R48H	R	+	2	0	GPR112	135232864	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-1.913000	0.01580	-2.829000	0.00340	-0.312000	0.09012	CGT		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			8	876	0	0	0	1	0	8	876				
TNKS	8658	broad.mit.edu	37	8	9437667	9437667	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:9437667A>T	ENST00000310430.6	+	2	699		c.e2-1		TNKS_ENST00000518281.1_Splice_Site|TNKS_ENST00000520408.1_Splice_Site	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase						mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTTTCTTTTTAGGTTTTGGAA	0.353																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.e2-1		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							154.0	144.0	148.0					8																	9437667		2203	4300	6503	SO:0001630	splice_region_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9437667A>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.674-1A>T	8.37:g.9437667A>T			Somatic				TNKS_ENST00000520408.1_Splice_Site|TNKS_ENST00000518281.1_Splice_Site		NM_003747.2	NP_003738.2	WXS	Illumina GAIIx	Phase_I	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	2	699	+								O95272|Q4G0F2	Splice_Site	SNP	ENST00000310430.6	37		CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294748	0.81025	.	.	ENSG00000173273	ENST00000520408;ENST00000310430	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNKS	9475077	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	9.255000	0.95524	2.289000	0.77006	0.482000	0.46254	.		0.353	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	Intron	8	325	0	0	0	1	0	8	325				
STAG3	10734	broad.mit.edu	37	7	99801731	99801731	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:99801731C>T	ENST00000426455.1	+	26	3195	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	STAG3_ENST00000394018.2_Silent_p.L872L|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Silent_p.L930L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	930					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCTGCTGCTGAGCCTCAA	0.498																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2788-2790)Ctg>Ttg		stromal antigen 3							139.0	111.0	121.0					7																	99801731		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99801731C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2788C>T	7.37:g.99801731C>T			Somatic				STAG3_ENST00000394018.2_Silent_p.L872L|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.L930L|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	p.L930L			WXS	Illumina GAIIx	Phase_I	Q9UJ98	STAG3_HUMAN			26	3195	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		930					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.2788C>T	CCDS34703.1																																																																																				0.498	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		88	226	0	0	0	1	0	88	226				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T			Somatic						NM_000441.1	NP_000432.1	WXS	Illumina GAIIx	Phase_I	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	11	566	0	0	0	1	0	11	566				
CADM1	23705	broad.mit.edu	37	11	115102194	115102194	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:115102194C>T	ENST00000452722.3	-	4	461	c.441G>A	c.(439-441)ctG>ctA	p.L147L	CADM1_ENST00000331581.6_Silent_p.L147L|CADM1_ENST00000536727.1_Silent_p.L147L|CADM1_ENST00000542447.2_Silent_p.L147L|CADM1_ENST00000537058.1_Silent_p.L147L|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											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)		TATCGATCATCAGATTACGTG	0.418																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(439-441)ctG>ctA		cell adhesion molecule 1							186.0	156.0	166.0					11																	115102194		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.chr11:115102194C>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.441G>A	11.37:g.115102194C>T			Somatic				CADM1_ENST00000452722.2_Silent_p.L147L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.L147L|CADM1_ENST00000331581.6_Silent_p.L147L|CADM1_ENST00000536727.1_Silent_p.L147L	p.L147L	NM_001098517.1	NP_001091987.1	WXS	Illumina GAIIx	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	4	569	-	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)	147			Ig-like C2-type 1.			Silent	SNP	ENST00000452722.3	37	c.441G>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	9.520	1.107919	0.20714	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	5.26	0.73747	.	.	.	.	.	T	0.64271	0.2583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63171	-0.6697	4	.	.	.	.	12.3955	0.55382	0.0:0.8659:0.0:0.1341	.	.	.	.	N	146	.	.	D	-	1	0	CADM1	114607404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.886000	0.28241	1.616000	0.50265	0.655000	0.94253	GAT		0.418	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		94	211	0	0	0	1	0	94	211				
MRPS27	23107	broad.mit.edu	37	5	71591418	71591418	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:71591418T>A	ENST00000261413.5	-	4	262		c.e4-2		MRPS27_ENST00000522095.1_Splice_Site|MRPS27_ENST00000513900.1_Splice_Site|MRPS27_ENST00000457646.4_Splice_Site|MRPS27_ENST00000515404.1_Splice_Site	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27							mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GTCTATAAGCTAAAAGACAGA	0.358																																						ENST00000261413.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.e4-2		mitochondrial ribosomal protein S27							95.0	100.0	99.0					5																	71591418		2203	4300	6503	SO:0001630	splice_region_variant	23107					mitochondrion|ribosome		g.chr5:71591418T>A	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.223-2A>T	5.37:g.71591418T>A			Somatic				MRPS27_ENST00000457646.4_Splice_Site|MRPS27_ENST00000522095.1_Splice_Site|MRPS27_ENST00000513900.1_Splice_Site|MRPS27_ENST00000515404.1_Splice_Site		NM_015084.2	NP_055899.2	WXS	Illumina GAIIx	Phase_I	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	4	262	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)						B4DRT2|Q6P1S1	Splice_Site	SNP	ENST00000261413.5	37		CCDS4013.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925578	0.73213	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404;ENST00000522095	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9974	0.58654	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS27	71627174	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	5.727000	0.68523	2.254000	0.74563	0.460000	0.39030	.		0.358	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084	Intron	4	109	0	0	0	1	0	4	109				
KRTAP10-3	386682	broad.mit.edu	37	21	45978175	45978175	+	Missense_Mutation	SNP	G	G	A	rs190980029	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:45978175G>A	ENST00000391620.1	-	1	468	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	142	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GCCGGCTGGCGGCTAGACTGC	0.662													A|||	8	0.00159744	0.003	0.0029	5008	,	,		16646	0.002		0.0	False		,,,				2504	0.0					ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(424-426)Cgc>Tgc		keratin associated protein 10-3		A	,CYS/ARG	15,4389	821.8+/-416.4	0,15,2187	117.0	124.0	122.0		,424	3.1	0.9	21		122	1,8599	814.9+/-407.0	0,1,4299	no	intron,missense	TSPEAR,KRTAP10-3	NM_144991.2,NM_198696.2	,180	0,16,6486	AA,AG,GG		0.0116,0.3406,0.123	,benign	,142/222	45978175	16,12988	2202	4300	6502	SO:0001583	missense	386682					keratin filament		g.chr21:45978175G>A	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.424C>T	21.37:g.45978175G>A	ENSP00000375478:p.Arg142Cys		Somatic				TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.R142C	NM_198696.2	NP_941969.2	WXS	Illumina GAIIx	Phase_I	P60369	KR103_HUMAN			1	468	-			142			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.424C>T	CCDS42956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	a	0.293	-0.979004	0.02197	0.003406	1.16E-4	ENSG00000212935	ENST00000391620	T	0.00659	5.94	3.11	3.11	0.35812	.	.	.	.	.	T	0.00178	0.0005	N	0.00012	-2.965	0.32926	D	0.516441	B	0.02656	0.0	B	0.01281	0.0	T	0.16928	-1.0386	9	0.02654	T	1	.	6.6323	0.22863	0.8764:0.0:0.1236:0.0	.	142	P60369	KR103_HUMAN	C	142	ENSP00000375478:R142C	ENSP00000375478:R142C	R	-	1	0	KRTAP10-3	44802603	0.997000	0.39634	0.867000	0.34043	0.670000	0.39368	0.564000	0.23563	0.393000	0.25203	-0.361000	0.07541	CGC		0.662	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			5	404	0	0	0	1	0	5	404				
POLA1	5422	broad.mit.edu	37	X	24745112	24745112	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:24745112C>A	ENST00000379059.3	+	14	1452	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Silent_p.T485T	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	479					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TATTTGGGACCAACACATCTA	0.358																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(1453-1455)acC>acA		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						71.0	65.0	67.0					X																	24745112		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24745112C>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1437C>A	X.37:g.24745112C>A			Somatic				POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379059.3_Silent_p.T479T	p.T485T			WXS	Illumina GAIIx	Phase_I	P09884	DPOLA_HUMAN			14	1498	+			479					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.1455C>A	CCDS14214.1																																																																																				0.358	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		5	80	1	0	0.307466	1	0.309119	5	80				
IPO11	51194	broad.mit.edu	37	5	61846192	61846192	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:61846192A>T	ENST00000325324.6	+	25	2419		c.e25-1		IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11						ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTGGTTTTTAGGTTGTGGAA	0.348																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.e25-1		importin 11							124.0	119.0	121.0					5																	61846192		2203	4299	6502	SO:0001630	splice_region_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61846192A>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2251-1A>T	5.37:g.61846192A>T			Somatic				IPO11_ENST00000409296.3_Splice_Site		NM_016338.4	NP_057422.3	WXS	Illumina GAIIx	Phase_I	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	25	2419	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)						A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Splice_Site	SNP	ENST00000325324.6	37		CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273101	0.80580	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553;ENST00000511713	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1999	0.73126	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO11	61881949	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.268000	0.89876	2.088000	0.63022	0.528000	0.53228	.		0.348	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	Intron	4	58	0	0	0	1	0	4	58				
LRP6	4040	broad.mit.edu	37	12	12278312	12278312	+	Missense_Mutation	SNP	C	C	T	rs367658176		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:12278312C>T	ENST00000261349.4	-	21	4443	c.4367G>A	c.(4366-4368)aGt>aAt	p.S1456N	LRP6_ENST00000543091.1_Missense_Mutation_p.S1411N|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1456					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGGGGGTCCACTGCTTCCCCC	0.433																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4366-4368)aGt>aAt		low density lipoprotein receptor-related protein 6							111.0	92.0	99.0					12																	12278312		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12278312C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4367G>A	12.37:g.12278312C>T	ENSP00000261349:p.Ser1456Asn		Somatic				BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1411N|LRP6_ENST00000540415.1_5'UTR	p.S1456N	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			21	4443	-		Prostate(47;0.0865)	1456					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4367G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072612	0.76415	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	T;T	0.50001	0.76;0.76	6.03	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.59293	0.2183	L	0.45137	1.4	0.80722	D	1	D;P	0.61080	0.989;0.615	D;B	0.72982	0.979;0.347	T	0.49579	-0.8925	10	0.26408	T	0.33	.	15.7129	0.77644	0.0:0.9337:0.0:0.0663	.	1411;1456	F5H7J9;O75581	.;LRP6_HUMAN	N	1456;1411	ENSP00000261349:S1456N;ENSP00000442472:S1411N	ENSP00000261349:S1456N	S	-	2	0	LRP6	12169579	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.691000	0.68249	2.861000	0.98227	0.655000	0.94253	AGT		0.433	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			21	197	0	0	0	1	0	21	197				
CFAP53	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(976-978)gaT>gaA		coiled-coil domain containing 11							241.0	215.0	223.0					18																	47777146		1854	4095	5949	SO:0001583	missense	220136							g.chr18:47777146A>T																												ENST00000398545.4:c.978T>A	18.37:g.47777146A>T	ENSP00000381553:p.Asp326Glu		Somatic					p.D326E	NM_145020.3	NP_659457.2	WXS	Illumina GAIIx	Phase_I	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	5	1095	-			326						Missense_Mutation	SNP	ENST00000398545.4	37	c.978T>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637057	0.29157	.	.	ENSG00000172361	ENST00000398545	T	0.07216	3.21	5.96	-2.61	0.06171	.	0.445863	0.24823	N	0.035311	T	0.03477	0.0100	L	0.31664	0.95	0.29478	N	0.856576	B	0.12013	0.005	B	0.16722	0.016	T	0.44345	-0.9334	10	0.02654	T	1	-7.8359	3.1294	0.06418	0.2438:0.468:0.1605:0.1277	.	326	Q96M91	CCD11_HUMAN	E	326	ENSP00000381553:D326E	ENSP00000381553:D326E	D	-	3	2	CCDC11	46031144	0.973000	0.33851	0.928000	0.36995	0.945000	0.59286	0.003000	0.13083	-0.079000	0.12707	0.533000	0.62120	GAT		0.423	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			7	534	0	0	0	1	0	7	534				
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e19-1		RAN binding protein 2							91.0	100.0	97.0					2																	109378555		931	2027	2958	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109378555A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2603-1A>T	2.37:g.109378555A>T			Somatic						NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			19	2728	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294558	0.81025	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3858	0.74699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108744987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.088000	0.63022	0.455000	0.32223	.		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	7	78	0	0	0	1	0	7	78				
CNOT6	57472	broad.mit.edu	37	5	179994847	179994847	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:179994847A>T	ENST00000393356.1	+	11	1296		c.e11-1		CNOT6_ENST00000261951.4_Splice_Site			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTGTTTTAGATTTACTTT	0.403																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.e11-1		CCR4-NOT transcription complex, subunit 6							95.0	96.0	95.0					5																	179994847		2203	4300	6503	SO:0001630	splice_region_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179994847A>T	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.873-1A>T	5.37:g.179994847A>T			Somatic				CNOT6_ENST00000261951.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	11	1296	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)						A7MD46|D3DWR0	Splice_Site	SNP	ENST00000393356.1	37		CCDS4455.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404986	0.83230	.	.	ENSG00000113300	ENST00000261951;ENST00000393356;ENST00000504343	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8895	0.79286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT6	179927453	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.207000	0.71202	0.533000	0.62120	.		0.403	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455	Intron	5	127	0	0	0	1	0	5	127				
PMS2	5395	broad.mit.edu	37	7	6029494	6029494	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:6029494C>G	ENST00000265849.7	-	10	1186	c.1081G>C	c.(1081-1083)Gga>Cga	p.G361R	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G361R|PMS2_ENST00000441476.2_Missense_Mutation_p.G255R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	361					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAAACATTCCTATCAAAGAG	0.373			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1081-1083)Gga>Cga	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							118.0	112.0	114.0					7																	6029494		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6029494C>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1081G>C	7.37:g.6029494C>G	ENSP00000265849:p.Gly361Arg		Somatic				PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G361R|PMS2_ENST00000441476.2_Missense_Mutation_p.G255R|PMS2_ENST00000382321.4_Intron	p.G361R	NM_000535.5	NP_000526.1	WXS	Illumina GAIIx	Phase_I	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	10	1186	-		Ovarian(82;0.0694)	361					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1081G>C	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	17.99	3.522742	0.64747	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;T	0.80738	-1.41;-1.41;-1.41	5.73	4.85	0.62838	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.635714	0.16912	N	0.194450	T	0.80248	0.4588	N	0.25485	0.75	0.34739	D	0.730541	B;D;D	0.61080	0.197;0.989;0.966	B;B;P	0.58780	0.044;0.402;0.845	T	0.80752	-0.1242	10	0.21540	T	0.41	-1.9642	14.5361	0.67960	0.0:0.9301:0.0:0.0699	.	361;361;255	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	R	361;314;255;361	ENSP00000265849:G361R;ENSP00000392843:G255R;ENSP00000384308:G361R	ENSP00000265849:G361R	G	-	1	0	PMS2	5996020	0.374000	0.25081	0.986000	0.45419	0.995000	0.86356	1.783000	0.38664	1.440000	0.47531	0.650000	0.86243	GGA		0.373	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		33	113	0	0	0	1	0	33	113				
SCFD1	23256	broad.mit.edu	37	14	31204790	31204790	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:31204790A>T	ENST00000458591.2	+	25	2132		c.e25-1		SCFD1_ENST00000421551.3_Splice_Site|RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000541123.1_Splice_Site|SCFD1_ENST00000544052.2_Splice_Site|SCFD1_ENST00000396629.2_Splice_Site	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1						post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GTTTTGTTTTAGTTGTCACAA	0.264																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.e25-1		sec1 family domain containing 1							100.0	105.0	103.0					14																	31204790		2203	4299	6502	SO:0001630	splice_region_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31204790A>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1906-1A>T	14.37:g.31204790A>T			Somatic				SCFD1_ENST00000421551.3_Splice_Site|SCFD1_ENST00000396629.2_Splice_Site|SCFD1_ENST00000541123.1_Splice_Site|RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000544052.2_Splice_Site		NM_016106.3	NP_057190.2	WXS	Illumina GAIIx	Phase_I	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	25	2132	+	Hepatocellular(127;0.0877)							A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Splice_Site	SNP	ENST00000458591.2	37		CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544490	0.45280	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8058	0.63230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCFD1	30274541	1.000000	0.71417	0.993000	0.49108	0.550000	0.35303	5.521000	0.67086	2.295000	0.77249	0.523000	0.50628	.		0.264	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835	Intron	4	36	0	0	0	1	0	4	36				
ZFAND2A	90637	broad.mit.edu	37	7	1197388	1197388	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:1197388T>A	ENST00000316495.3	-	3	315		c.e3-2		AC091729.9_ENST00000423008.1_RNA|ZFAND2A_ENST00000401903.1_Splice_Site|ZFAND2A_ENST00000478137.1_5'Flank|AC091729.9_ENST00000422230.1_RNA|AC091729.9_ENST00000413706.1_RNA	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A						cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAAGAAAATCTAAAAAACAAA	0.343																																						ENST00000401903.1																			0				lung(2)|ovary(1)	3						c.e3-2		zinc finger, AN1-type domain 2A							101.0	109.0	106.0					7																	1197388		2203	4300	6503	SO:0001630	splice_region_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1197388T>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.56-2A>T	7.37:g.1197388T>A			Somatic				ZFAND2A_ENST00000316495.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	3	315	-		Ovarian(82;0.11)						A4D220	Splice_Site	SNP	ENST00000316495.3	37		CCDS5323.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582845	0.28268	.	.	ENSG00000178381	ENST00000401903;ENST00000397083;ENST00000316495	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1582	0.59531	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFAND2A	1163914	1.000000	0.71417	0.971000	0.41717	0.302000	0.27658	6.792000	0.75125	2.007000	0.58848	0.533000	0.62120	.		0.343	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491	Intron	5	192	0	0	0	1	0	5	192				
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000507281.1_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.e3-1		glutathione S-transferase, C-terminal domain containing							54.0	62.0	59.0					4																	106640215		2192	4295	6487	SO:0001630	splice_region_variant	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640215A>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.427-1A>T	4.37:g.106640215A>T			Somatic				GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	646	+		Hepatocellular(203;0.217)						A8K8J0|A8MVD3|H9KV97|Q9H8S3	Splice_Site	SNP	ENST00000515279.1	37		CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383790	0.61845	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0247	0.71659	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GSTCD	106859664	1.000000	0.71417	0.983000	0.44433	0.779000	0.44077	8.400000	0.90200	2.133000	0.65898	0.482000	0.46254	.		0.338	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	Intron	7	98	0	0	0	1	0	7	98				
LPA	4018	broad.mit.edu	37	6	161026233	161026233	+	Silent	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:161026233T>C	ENST00000316300.5	-	18	2834	c.2790A>G	c.(2788-2790)ccA>ccG	p.P930P	LPA_ENST00000447678.1_Silent_p.P930P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3438	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTTGCTCAGTTGGTGCTGAAA	0.438																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2788-2790)ccA>ccG		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						196.0	201.0	199.0					6																	161026233		2176	4294	6470	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161026233T>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2790A>G	6.37:g.161026233T>C			Somatic				LPA_ENST00000316300.5_Silent_p.P930P	p.P930P	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	19	2910	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3438			Kringle 9.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.2790A>G	CCDS43523.1																																																																																				0.438	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	748	0	0	0	1	0	6	748				
PRSS12	8492	broad.mit.edu	37	4	119203321	119203321	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:119203321C>T	ENST00000296498.3	-	13	2680	c.2398G>A	c.(2398-2400)Ggt>Agt	p.G800S	PRSS12_ENST00000510903.1_5'Flank|SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	800	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GTAAACCGACCCTTATAACGT	0.478																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2398-2400)Ggt>Agt		protease, serine, 12 (neurotrypsin, motopsin)							129.0	122.0	124.0					4																	119203321		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119203321C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2398G>A	4.37:g.119203321C>T	ENSP00000296498:p.Gly800Ser		Somatic					p.G800S	NM_003619.3	NP_003610.2	WXS	Illumina GAIIx	Phase_I	P56730	NETR_HUMAN			13	2680	-			800			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2398G>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	c	12.17	1.858299	0.32791	.	.	ENSG00000164099	ENST00000296498	D	0.89123	-2.47	6.08	3.1	0.35709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.481200	0.26594	N	0.023519	T	0.72692	0.3492	N	0.12611	0.24	0.26945	N	0.966164	B	0.13145	0.007	B	0.12837	0.008	T	0.56050	-0.8043	10	0.09590	T	0.72	.	4.8161	0.13367	0.0:0.5618:0.1854:0.2528	.	800	P56730	NETR_HUMAN	S	800	ENSP00000296498:G800S	ENSP00000296498:G800S	G	-	1	0	PRSS12	119422769	0.226000	0.23696	0.131000	0.22000	0.963000	0.63663	1.243000	0.32767	0.923000	0.37045	-0.187000	0.12897	GGT		0.478	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			4	487	0	0	0	1	0	4	487				
EIF2S2	8894	broad.mit.edu	37	20	32686368	32686368	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:32686368A>T	ENST00000374980.2	-	4	590	c.369T>A	c.(367-369)aaT>aaA	p.N123K		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCTTCTTTTTATTGCCAAGCA	0.368																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(367-369)aaT>aaA		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							98.0	95.0	96.0					20																	32686368		2203	4298	6501	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32686368A>T	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.369T>A	20.37:g.32686368A>T	ENSP00000364119:p.Asn123Lys		Somatic					p.N123K	NM_003908.3	NP_003899.2	WXS	Illumina GAIIx	Phase_I	P20042	IF2B_HUMAN			4	590	-			123					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.369T>A	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	A	4.126	0.021634	0.08006	.	.	ENSG00000125977	ENST00000374980	T	0.38240	1.15	5.81	3.44	0.39384	.	0.314551	0.39407	N	0.001362	T	0.07007	0.0178	N	0.00368	-1.59	0.31290	N	0.689514	B;B;B	0.30482	0.0;0.281;0.281	B;B;B	0.19391	0.0;0.025;0.025	T	0.29181	-1.0020	10	0.05833	T	0.94	-23.5759	7.5922	0.28027	0.7828:0.0:0.2172:0.0	.	123;123;123	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	K	123	ENSP00000364119:N123K	ENSP00000364119:N123K	N	-	3	2	EIF2S2	32150029	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.554000	0.23407	0.971000	0.38288	0.528000	0.53228	AAT		0.368	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		7	183	0	0	0	1	0	7	183				
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282.0	295.0	291.0					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val		Somatic				LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	p.A162V	NM_001105206.2	NP_001098676.2	WXS	Illumina GAIIx	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	976	0	0	0	1	0	5	976				
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1396-1398)aCa>aAa		zinc finger protein 479							61.0	62.0	61.0					7																	57187725		2091	4234	6325	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187725G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1397C>A	7.37:g.57187725G>T	ENSP00000333776:p.Thr466Lys		Somatic					p.T466K	NM_033273.1	NP_150376.1	WXS	Illumina GAIIx	Phase_I	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1667	-			466						Missense_Mutation	SNP	ENST00000331162.4	37	c.1397C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.806322	0.00074	.	.	ENSG00000185177	ENST00000331162	T	0.20738	2.05	0.955	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35699	-0.9778	9	0.02654	T	1	.	5.6195	0.17450	0.0:0.0:0.5844:0.4156	.	466	Q96JC4	ZN479_HUMAN	K	466	ENSP00000333776:T466K	ENSP00000333776:T466K	T	-	2	0	ZNF479	57191667	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.024000	0.03603	-0.948000	0.03668	-0.940000	0.02684	ACA		0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		4	181	1	0	0.0215528	1	0.0219639	4	181				
COPG1	22820	broad.mit.edu	37	3	128976337	128976337	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:128976337C>G	ENST00000314797.6	+	9	708	c.604C>G	c.(604-606)Cat>Gat	p.H202D		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	202					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GCTCCTGTACCATGTGCGTAA	0.517																																						ENST00000314797.6																			0											c.(604-606)Cat>Gat		coatomer protein complex, subunit gamma 1							168.0	162.0	164.0					3																	128976337		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128976337C>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.604C>G	3.37:g.128976337C>G	ENSP00000325002:p.His202Asp		Somatic					p.H202D	NM_016128.3	NP_057212.1	WXS	Illumina GAIIx	Phase_I	Q9Y678	COPG_HUMAN			9	708	+			202					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.604C>G	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274044	0.59649	.	.	ENSG00000181789	ENST00000314797	T	0.25579	1.79	5.29	5.29	0.74685	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.145662	0.47093	D	0.000243	T	0.48909	0.1526	M	0.71206	2.165	0.53688	D	0.999973	D	0.54772	0.968	D	0.67900	0.954	T	0.33904	-0.9850	10	0.30854	T	0.27	-1.1238	16.519	0.84308	0.0:1.0:0.0:0.0	.	202	Q9Y678	COPG_HUMAN	D	202	ENSP00000325002:H202D	ENSP00000325002:H202D	H	+	1	0	COPG	130459027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.517000	0.81783	2.490000	0.84030	0.585000	0.79938	CAT		0.517	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		4	456	0	0	0	1	0	4	456				
ITLN1	55600	broad.mit.edu	37	1	160854675	160854675	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:160854675T>A	ENST00000326245.3	-	2	110		c.e2-2			NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)						positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTGTAATCTAAAGAAAGCA	0.493																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.e2-2		intelectin 1 (galactofuranose binding)							148.0	141.0	143.0					1																	160854675		2203	4300	6503	SO:0001630	splice_region_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160854675T>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.6-2A>T	1.37:g.160854675T>A			Somatic						NM_017625.2	NP_060095.2	WXS	Illumina GAIIx	Phase_I	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	110	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)							Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Splice_Site	SNP	ENST00000326245.3	37		CCDS1211.1																																																																																				0.493	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625	Intron	7	531	0	0	0	1	0	7	531				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.e19-2		oxysterol binding protein-like 3							72.0	71.0	71.0					7																	24854824		2203	4300	6503	SO:0001630	splice_region_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24854824T>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2028-2A>T	7.37:g.24854824T>A			Somatic				OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site		NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			19	2479	-								A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Splice_Site	SNP	ENST00000313367.2	37		CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899311	0.91962	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.387	0.66953	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL3	24821349	1.000000	0.71417	0.111000	0.21465	0.961000	0.63080	8.037000	0.88933	1.876000	0.54355	0.379000	0.24179	.		0.378	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		Intron	11	137	0	0	0	1	0	11	137				
THEMIS	387357	broad.mit.edu	37	6	128135078	128135078	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:128135078T>A	ENST00000368248.2	-	4	858		c.e4-2		THEMIS_ENST00000537166.1_Splice_Site|THEMIS_ENST00000368250.1_Splice_Site|THEMIS_ENST00000543064.1_Splice_Site	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated						negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTTTTCGAACTAAAAAGAAAA	0.328																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.e5-2		thymocyte selection associated							53.0	57.0	56.0					6																	128135078		2109	4277	6386	SO:0001630	splice_region_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128135078T>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.710-2A>T	6.37:g.128135078T>A			Somatic				THEMIS_ENST00000543064.1_Splice_Site|THEMIS_ENST00000537166.1_Splice_Site|THEMIS_ENST00000368248.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8N1K5	THMS1_HUMAN			5	971	-								A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Splice_Site	SNP	ENST00000368248.2	37		CCDS34534.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932414	0.34096	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	.	.	.	5.49	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7927	0.40715	0.2748:0.0:0.0:0.7251	.	.	.	.	.	-1	.	.	.	-	.	.	THEMIS	128176771	1.000000	0.71417	0.032000	0.17829	0.861000	0.49209	6.396000	0.73234	0.882000	0.36016	0.455000	0.32223	.		0.328	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	Intron	4	89	0	0	0	1	0	4	89				
XRN1	54464	broad.mit.edu	37	3	142054353	142054353	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:142054353T>A	ENST00000264951.4	-	34	3995		c.e34-2		XRN1_ENST00000392981.2_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTCTTTAACTAGAGACAAGA	0.313																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.e34-2		5'-3' exoribonuclease 1							87.0	91.0	90.0					3																	142054353		2201	4300	6501	SO:0001630	splice_region_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142054353T>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3878-2A>T	3.37:g.142054353T>A			Somatic				XRN1_ENST00000392981.2_Splice_Site		NM_019001.3	NP_061874.3	WXS	Illumina GAIIx	Phase_I	Q8IZH2	XRN1_HUMAN			34	3995	-								Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Splice_Site	SNP	ENST00000264951.4	37		CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223578	0.39300	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3371	0.60524	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRN1	143537043	1.000000	0.71417	0.992000	0.48379	0.588000	0.36517	4.337000	0.59310	2.038000	0.60285	0.455000	0.32223	.		0.313	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	Intron	4	36	0	0	0	1	0	4	36				
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T	rs200616857		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(763-765)Atg>Ttg		olfactory receptor, family 4, subfamily A, member 47							213.0	206.0	208.0					11																	48511107		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511107A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.763A>T	11.37:g.48511107A>T	ENSP00000412752:p.Met255Leu		Somatic					p.M255L	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	839	+			255						Missense_Mutation	SNP	ENST00000446524.1	37	c.763A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	2.307	-0.358736	0.05138	.	.	ENSG00000237388	ENST00000446524	T	0.00115	8.71	4.59	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.173909	0.40728	N	0.001040	T	0.00109	0.0003	N	0.16790	0.44	0.09310	N	1	B	0.19331	0.035	B	0.20955	0.032	T	0.04216	-1.0968	10	0.17369	T	0.5	.	8.5275	0.33313	0.9019:0.0:0.0981:0.0	.	255	Q6IF82	O4A47_HUMAN	L	255	ENSP00000412752:M255L	ENSP00000412752:M255L	M	+	1	0	OR4A47	48467683	0.000000	0.05858	0.998000	0.56505	0.282000	0.26991	0.172000	0.16704	1.692000	0.51112	0.172000	0.16884	ATG		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		13	871	0	0	0	1	0	13	871				
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e11-1		zinc finger protein 512							154.0	145.0	148.0					2																	27838033		2203	4300	6503	SO:0001630	splice_region_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27838033A>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1132-1A>T	2.37:g.27838033A>T			Somatic				ZNF512_ENST00000413371.2_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q96ME7	ZN512_HUMAN			11	1214	+	Acute lymphoblastic leukemia(172;0.155)							B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Splice_Site	SNP	ENST00000355467.4	37		CCDS1758.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512015	0.85389	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2369	0.59974	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF512	27691537	1.000000	0.71417	0.959000	0.39883	0.942000	0.58702	7.773000	0.85462	2.136000	0.66102	0.533000	0.62120	.		0.363	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434	Intron	9	150	0	0	0	1	0	9	150				
GRIN2A	2903	broad.mit.edu	37	16	9858170	9858170	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:9858170A>T	ENST00000396573.2	-	14	3540	c.3231T>A	c.(3229-3231)agT>agA	p.S1077R	GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1077R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1077R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S920R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1077R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1077R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1077					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTGGTTCTTACTGTTGTCAG	0.488																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3229-3231)agT>agA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						127.0	118.0	121.0					16																	9858170		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858170A>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3231T>A	16.37:g.9858170A>T	ENSP00000379818:p.Ser1077Arg		Somatic				GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1077R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1077R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1077R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1077R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S920R	p.S1077R	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			14	3540	-			1077					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3231T>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.645479	0.29246	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10960	2.83;2.82;2.82;2.83;2.83	5.04	0.0374	0.14196	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.335783	0.37261	N	0.002173	T	0.06096	0.0158	N	0.19112	0.55	0.27435	N	0.953897	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.15484	0.001;0.003;0.013	T	0.38542	-0.9656	9	.	.	.	.	10.2466	0.43345	0.606:0.0:0.394:0.0	.	920;1077;1077	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	R	1077;1077;920;1077;1077	ENSP00000379818:S1077R;ENSP00000385872:S1077R;ENSP00000441572:S920R;ENSP00000332549:S1077R;ENSP00000379820:S1077R	.	S	-	3	2	GRIN2A	9765671	0.997000	0.39634	0.976000	0.42696	0.992000	0.81027	0.822000	0.27352	-0.017000	0.14103	0.533000	0.62120	AGT		0.488	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			8	332	0	0	0	1	0	8	332				
LAMA2	3908	broad.mit.edu	37	6	129722454	129722454	+	Missense_Mutation	SNP	G	G	A	rs150691000	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:129722454G>A	ENST00000421865.2	+	38	5580	c.5531G>A	c.(5530-5532)cGt>cAt	p.R1844H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1844	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1844H(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGCCAACCGTCTTGCAGAT	0.403													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		20433	0.0		0.0	False		,,,				2504	0.0					ENST00000421865.2																			1	Substitution - Missense(1)	p.R1844H(1)	endometrium(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(5530-5532)cGt>cAt		laminin, alpha 2		G	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	128.0	123.0	125.0		5531,5531	3.5	1.0	6	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	29,29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign,benign	1844/3123,1844/3119	129722454	4,13002	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129722454G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5531G>A	6.37:g.129722454G>A	ENSP00000400365:p.Arg1844His		Somatic					p.R1844H	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	38	5580	+			1844			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5531G>A	CCDS5138.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	13.15	2.151242	0.38021	6.81E-4	1.16E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.23754	1.89	5.28	3.46	0.39613	Laminin I (1);	0.586969	0.17927	N	0.157316	T	0.04998	0.0134	N	0.14661	0.345	0.26792	N	0.969381	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.27400	-1.0075	10	0.44086	T	0.13	.	6.5772	0.22573	0.3663:0.0:0.6337:0.0	.	1844;1844	A6NF00;P24043	.;LAMA2_HUMAN	H	1844	ENSP00000400365:R1844H	ENSP00000346769:R1844H	R	+	2	0	LAMA2	129764147	0.025000	0.19082	0.997000	0.53966	0.822000	0.46500	0.993000	0.29680	1.349000	0.45751	0.655000	0.94253	CGT		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	242	0	0	0	1	0	4	242				
OR4D1	26689	broad.mit.edu	37	17	56232618	56232618	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:56232618A>T	ENST00000268912.5	+	1	125	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	35					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)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTTAGTCTATGTTACCACC	0.463																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(103-105)tAt>tTt		olfactory receptor, family 4, subfamily D, member 1							150.0	149.0	149.0					17																	56232618		2037	4214	6251	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232618A>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.104A>T	17.37:g.56232618A>T	ENSP00000365451:p.Tyr35Phe		Somatic					p.Y35F	NM_012374.1	NP_036506.1	WXS	Illumina GAIIx	Phase_I	Q15615	OR4D1_HUMAN			1	125	+			35					B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.104A>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	15.28	2.787754	0.49997	.	.	ENSG00000141194	ENST00000268912	T	0.04406	3.63	5.63	5.63	0.86233	.	0.000000	0.37437	U	0.002095	T	0.17874	0.0429	M	0.78344	2.41	0.09310	N	1	D	0.55385	0.971	P	0.57324	0.818	T	0.04128	-1.0975	10	0.87932	D	0	-16.5865	13.7938	0.63157	1.0:0.0:0.0:0.0	.	35	Q15615	OR4D1_HUMAN	F	35	ENSP00000365451:Y35F	ENSP00000365451:Y35F	Y	+	2	0	OR4D1	53587617	0.997000	0.39634	0.586000	0.28679	0.233000	0.25261	4.265000	0.58865	2.142000	0.66516	0.443000	0.29094	TAT		0.463	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			8	609	0	0	0	1	0	8	609				
GLIPR1L2	144321	broad.mit.edu	37	12	75816771	75816771	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:75816771T>A	ENST00000550916.1	+	4	717		c.e4+2		GLIPR1L2_ENST00000378692.3_Splice_Site|GLIPR1L2_ENST00000441218.1_Splice_Site|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.S224R|GLIPR1L2_ENST00000435775.1_Splice_Site	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCTATGCAGTAAGATAAAGA	0.323																																						ENST00000320460.4																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(670-672)agT>agA		GLI pathogenesis-related 1 like 2							144.0	144.0	144.0					12																	75816771		2203	4299	6502	SO:0001630	splice_region_variant	144321					integral to membrane		g.chr12:75816771T>A	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.670+2T>A	12.37:g.75816771T>A			Somatic				GLIPR1L2_ENST00000378692.3_Splice_Site|GLIPR1L2_ENST00000550916.1_Splice_Site|GLIPR1L2_ENST00000435775.1_Splice_Site|GLIPR1L2_ENST00000441218.1_Splice_Site	p.S224R	NM_152436.2	NP_689649.1	WXS	Illumina GAIIx	Phase_I	Q4G1C9	GRPL2_HUMAN			4	680	+			224					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.672T>A	CCDS58258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.954398|3.954398	0.73902|0.73902	.|.	.|.	ENSG00000180481|ENSG00000180481	ENST00000550916;ENST00000378692;ENST00000441218|ENST00000320460	.|T	.|0.07021	.|3.23	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|.	.|.	.|.	.|.	.|T	.|0.13500	.|0.0327	N|N	0.20807|0.20807	0.61|0.61	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.69654	.|0.965	.|T	.|0.16988	.|-1.0384	.|8	.|.	.|.	.|.	.|.	11.0856|11.0856	0.48084|0.48084	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|224	.|Q4G1C9-2	.|.	.|R	-1|224	.|ENSP00000317385:S224R	.|.	.|S	+|+	.|3	.|2	GLIPR1L2|GLIPR1L2	74103038|74103038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.737000|3.737000	0.55060|0.55060	1.866000|1.866000	0.54105|0.54105	0.528000|0.528000	0.53228|0.53228	.|AGT		0.323	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436	Intron	6	249	0	0	0	1	0	6	249				
UBR4	23352	broad.mit.edu	37	1	19482017	19482017	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:19482017T>C	ENST00000375254.3	-	43	6245	c.6218A>G	c.(6217-6219)cAg>cGg	p.Q2073R	UBR4_ENST00000375267.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375226.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375217.2_Missense_Mutation_p.Q2073R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2073					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCCATAAGCTGAGTATAGAT	0.448																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6217-6219)cAg>cGg		ubiquitin protein ligase E3 component n-recognin 4							95.0	87.0	89.0					1																	19482017		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19482017T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6218A>G	1.37:g.19482017T>C	ENSP00000364403:p.Gln2073Arg		Somatic				UBR4_ENST00000375254.3_Missense_Mutation_p.Q2073R|UBR4_ENST00000375217.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375226.2_Missense_Mutation_p.Q2073R	p.Q2073R			WXS	Illumina GAIIx	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	43	6221	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2073					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.6218A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726507	0.89298	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	M	0.85945	2.785	0.80722	D	1	D;P	0.56035	0.974;0.851	P;P	0.56216	0.794;0.775	T	0.47837	-0.9086	10	0.72032	D	0.01	.	14.9281	0.70896	0.0:0.0:0.0:1.0	.	2073;2073	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	R	2073;2073;2073;2073;783;1289	ENSP00000364403:Q2073R;ENSP00000364416:Q2073R;ENSP00000364365:Q2073R;ENSP00000364374:Q2073R	ENSP00000364365:Q2073R	Q	-	2	0	UBR4	19354604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.330000	0.79181	2.112000	0.64535	0.528000	0.53228	CAG		0.448	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		3	217	0	0	0	1	0	3	217				
PAWR	5074	broad.mit.edu	37	12	80014925	80014925	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:80014925A>T	ENST00000328827.4	-	3	951	c.579T>A	c.(577-579)atT>atA	p.I193I		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	193	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTGTTGTGTAATTGCATCTT	0.373																																						ENST00000328827.4																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(577-579)atT>atA		PRKC, apoptosis, WT1, regulator							323.0	251.0	276.0					12																	80014925		2203	4300	6503	SO:0001819	synonymous_variant	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:80014925A>T	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.579T>A	12.37:g.80014925A>T			Somatic					p.I193I	NM_002583.2	NP_002574.2	WXS	Illumina GAIIx	Phase_I	Q96IZ0	PAWR_HUMAN			3	951	-			193			Selective for apoptosis induction in cancer cells (SAC).		O75796|Q6FHY9|Q8N700	Silent	SNP	ENST00000328827.4	37	c.579T>A	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	A	8.921	0.960982	0.18583	.	.	ENSG00000177425	ENST00000551712	.	.	.	5.52	-0.988	0.10245	.	.	.	.	.	T	0.57755	0.2075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53041	-0.8494	4	.	.	.	-1.4926	11.1721	0.48577	0.5067:0.0:0.4933:0.0	.	.	.	.	N	139	.	.	Y	-	1	0	PAWR	78539056	0.990000	0.36364	0.933000	0.37362	0.660000	0.38997	0.291000	0.18994	-0.325000	0.08577	-0.911000	0.02809	TAC		0.373	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		6	280	0	0	0	1	0	6	280				
SPINT1	6692	broad.mit.edu	37	15	41136788	41136788	+	Silent	SNP	C	C	T	rs557336289		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:41136788C>T	ENST00000344051.4	+	2	270	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RP11-532F12.5_ENST00000564302.1_RNA|RP11-532F12.5_ENST00000568525.1_RNA|RP11-532F12.5_ENST00000565315.1_RNA|SPINT1_ENST00000431806.1_Silent_p.L12L|SPINT1_ENST00000562057.1_Silent_p.L12L|RP11-532F12.5_ENST00000568419.1_RNA			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	12					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)		gcgcccgcctcgccccggccg	0.766													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11949	0.0		0.0	False		,,,				2504	0.0					ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(34-36)ctC>ctT		serine peptidase inhibitor, Kunitz type 1							10.0	12.0	12.0					15																	41136788		1883	3690	5573	SO:0001819	synonymous_variant	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41136788C>T		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.36C>T	15.37:g.41136788C>T			Somatic				SPINT1_ENST00000431806.1_Silent_p.L12L|SPINT1_ENST00000562057.1_Silent_p.L12L	p.L12L			WXS	Illumina GAIIx	Phase_I	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	2	270	+		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)	12					Q7Z7D2	Silent	SNP	ENST00000344051.4	37	c.36C>T	CCDS10067.1																																																																																				0.766	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		7	5	0	0	0	1	0	7	5				
ZNF318	24149	broad.mit.edu	37	6	43307989	43307989	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:43307989A>T	ENST00000361428.2	-	10	3824	c.3747T>A	c.(3745-3747)aaT>aaA	p.N1249K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1249	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGTTCCTTTTATTTTCAGCTT	0.413																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3745-3747)aaT>aaA		zinc finger protein 318							149.0	151.0	150.0					6																	43307989		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307989A>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3747T>A	6.37:g.43307989A>T	ENSP00000354964:p.Asn1249Lys		Somatic				ZNF318_ENST00000318149.3_Intron	p.N1249K	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	3824	-			1249			Lys-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.3747T>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	A	10.69	1.419927	0.25552	.	.	ENSG00000171467	ENST00000361428	T	0.44083	0.93	5.69	1.79	0.24919	.	0.790881	0.11566	N	0.551271	T	0.06325	0.0163	N	0.24115	0.695	0.28148	N	0.929517	P	0.38504	0.634	B	0.31101	0.124	T	0.23868	-1.0176	10	0.06757	T	0.87	-1.7101	5.2147	0.15336	0.5743:0.1457:0.2801:0.0	.	1249	Q5VUA4	ZN318_HUMAN	K	1249	ENSP00000354964:N1249K	ENSP00000354964:N1249K	N	-	3	2	ZNF318	43415967	0.995000	0.38212	0.854000	0.33618	0.856000	0.48823	0.521000	0.22893	0.362000	0.24319	0.533000	0.62120	AAT		0.413	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		6	266	0	0	0	1	0	6	266				
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:42022431A>T	ENST00000264451.7	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e4-1		solute carrier family 30 (zinc transporter), member 9							126.0	115.0	119.0					4																	42022431		2203	4299	6502	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022431A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.335-1A>T	4.37:g.42022431A>T			Somatic						NM_006345.3	NP_006336.3	WXS	Illumina GAIIx	Phase_I	Q6PML9	ZNT9_HUMAN			4	514	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Splice_Site	SNP	ENST00000264451.7	37		CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592832	0.86953	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A9	41717188	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Intron	8	102	0	0	0	1	0	8	102				
SERPINB3	6317	broad.mit.edu	37	18	61328386	61328386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:61328386G>T	ENST00000283752.5	-	2	208	c.65C>A	c.(64-66)tCa>tAa	p.S22*	SERPINB3_ENST00000332821.8_Nonsense_Mutation_p.S22*|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	22					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTTCTCTTTTGATTTTCTGAA	0.433																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(64-66)tCa>tAa		serpin peptidase inhibitor, clade B (ovalbumin), member 3							289.0	251.0	264.0					18																	61328386		2203	4300	6503	SO:0001587	stop_gained	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328386G>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.65C>A	18.37:g.61328386G>T	ENSP00000283752:p.Ser22*		Somatic				SERPINB3_ENST00000332821.8_Nonsense_Mutation_p.S22*|SERPINB11_ENST00000489748.1_RNA	p.S22*	NM_006919.2	NP_008850.1	WXS	Illumina GAIIx	Phase_I	P29508	SPB3_HUMAN			2	208	-			22					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Nonsense_Mutation	SNP	ENST00000283752.5	37	c.65C>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559652	0.45590	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	.	.	.	3.13	0.264	0.15607	.	2.634120	0.01835	N	0.034980	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3136	0.15843	0.1887:0.0:0.6499:0.1614	.	.	.	.	X	22	.	ENSP00000283752:S22X	S	-	2	0	SERPINB3	59479366	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.856000	0.04290	0.038000	0.15604	0.455000	0.32223	TCA		0.433	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		9	696	1	0	4.1943e-16	1	4.45645e-16	9	696				
PRRC2C	23215	broad.mit.edu	37	1	171509126	171509126	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:171509126G>A	ENST00000338920.4	+	16	2752	c.2515G>A	c.(2515-2517)Gac>Aac	p.D839N	PRRC2C_ENST00000392078.3_Missense_Mutation_p.D841N|PRRC2C_ENST00000367742.3_Missense_Mutation_p.D841N|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D839N	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	839					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGCTGCGTTGGACCAGGAACA	0.383																																						ENST00000367742.3																			0											c.(2521-2523)Gac>Aac		proline-rich coiled-coil 2C							139.0	142.0	141.0					1																	171509126		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509126G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2515G>A	1.37:g.171509126G>A	ENSP00000343629:p.Asp839Asn		Somatic				PRRC2C_ENST00000338920.4_Missense_Mutation_p.D839N|PRRC2C_ENST00000392078.3_Missense_Mutation_p.D841N|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D839N	p.D841N			WXS	Illumina GAIIx	Phase_I	Q9Y520	PRC2C_HUMAN			16	2763	+			839					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2521G>A	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648073	0.47258	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.85	5.85	0.93711	.	0.316812	0.22461	N	0.059755	T	0.04815	0.0130	L	0.27053	0.805	0.49915	D	0.999831	P	0.41848	0.763	B	0.39840	0.311	T	0.45498	-0.9257	10	0.42905	T	0.14	.	20.2313	0.98350	0.0:0.0:1.0:0.0	.	839	Q9Y520-4	.	N	841;840;839;841;839;596;598	ENSP00000375928:D841N;ENSP00000410219:D839N;ENSP00000356716:D841N;ENSP00000343629:D839N	ENSP00000343629:D839N	D	+	1	0	PRRC2C	169775750	1.000000	0.71417	0.038000	0.18304	0.604000	0.37047	8.381000	0.90152	2.784000	0.95788	0.580000	0.79431	GAC		0.383	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		82	239	0	0	0	1	0	82	239				
CXorf66	347487	broad.mit.edu	37	X	139038732	139038732	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:139038732A>T	ENST00000370540.1	-	3	432	c.409T>A	c.(409-411)Tta>Ata	p.L137I		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	137	Ser-rich.					integral component of membrane (GO:0016021)		p.L137I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTCTGATTAATTTTTCTGTG	0.438																																						ENST00000370540.1																			1	Substitution - Missense(1)	p.L137I(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(409-411)Tta>Ata		chromosome X open reading frame 66							265.0	224.0	238.0					X																	139038732		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038732A>T		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.409T>A	X.37:g.139038732A>T	ENSP00000359571:p.Leu137Ile		Somatic					p.L137I	NM_001013403.2	NP_001013421.1	WXS	Illumina GAIIx	Phase_I	Q5JRM2	CX066_HUMAN			3	432	-			137			Ser-rich.			Missense_Mutation	SNP	ENST00000370540.1	37	c.409T>A	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183136	0.38511	.	.	ENSG00000203933	ENST00000370540	T	0.50001	0.76	3.81	-6.62	0.01813	.	2.018840	0.03041	N	0.153365	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	B	0.33044	0.395	B	0.32289	0.143	T	0.09079	-1.0691	9	.	.	.	-0.5749	0.4062	0.00433	0.2657:0.1394:0.196:0.3989	.	137	Q5JRM2	CX066_HUMAN	I	137	ENSP00000359571:L137I	.	L	-	1	2	CXorf66	138866398	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.066000	0.03454	-1.531000	0.01749	0.446000	0.29264	TTA		0.438	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		6	582	0	0	0	1	0	6	582				
MARCH8	220972	broad.mit.edu	37	10	46028588	46028588	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:46028588A>T	ENST00000319836.3	-	2	821	c.72T>A	c.(70-72)agT>agA	p.S24R	MARCH8_ENST00000395769.2_Missense_Mutation_p.S24R|MARCH8_ENST00000395771.3_Missense_Mutation_p.S24R|MARCH8_ENST00000453424.2_Missense_Mutation_p.S24R	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	24					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CTTTGGTCTTACTTCTGTAGA	0.398																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(70-72)agT>agA		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							119.0	110.0	113.0					10																	46028588		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:46028588A>T	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.72T>A	10.37:g.46028588A>T	ENSP00000317087:p.Ser24Arg		Somatic				MARCH8_ENST00000319836.3_Missense_Mutation_p.S24R|MARCH8_ENST00000395771.3_Missense_Mutation_p.S24R|MARCH8_ENST00000395769.2_Missense_Mutation_p.S24R	p.S24R			WXS	Illumina GAIIx	Phase_I	Q5T0T0	MARH8_HUMAN			2	333	-			24					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.72T>A	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344199	0.41498	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769;ENST00000453980	T;T;T	0.12147	2.71;2.71;2.71	5.04	3.77	0.43336	.	.	.	.	.	T	0.06188	0.0160	N	0.08118	0	0.33600	D	0.602253	B	0.06786	0.001	B	0.04013	0.001	T	0.25328	-1.0135	9	0.24483	T	0.36	.	5.6187	0.17446	0.8231:0.0:0.1769:0.0	.	24	Q5T0T0	MARH8_HUMAN	R	24	ENSP00000379118:S24R;ENSP00000317087:S24R;ENSP00000379116:S24R	ENSP00000317087:S24R	S	-	3	2	MARCH8	45348594	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.708000	0.25719	0.603000	0.29913	0.460000	0.39030	AGT		0.398	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		5	186	0	0	0	1	0	5	186				
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(910-912)caT>caA		small nuclear ribonucleoprotein 48kDa (U11/U12)							81.0	79.0	79.0					6																	7606369		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7606369T>A	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.912T>A	6.37:g.7606369T>A	ENSP00000339834:p.His304Gln		Somatic					p.H304Q	NM_152551.3	NP_689764.3	WXS	Illumina GAIIx	Phase_I	Q6IEG0	SNR48_HUMAN			8	971	+			304			Arg-rich.		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.912T>A	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409395	0.42715	.	.	ENSG00000168566	ENST00000342415	T	0.30448	1.53	6.02	0.428	0.16499	.	0.415365	0.27749	N	0.018009	T	0.09686	0.0238	L	0.44542	1.39	0.26951	N	0.966026	B	0.28128	0.201	B	0.24701	0.055	T	0.20638	-1.0269	10	0.46703	T	0.11	-15.4244	9.6789	0.40059	0.0:0.492:0.0:0.508	.	304	Q6IEG0	SNR48_HUMAN	Q	304	ENSP00000339834:H304Q	ENSP00000339834:H304Q	H	+	3	2	SNRNP48	7551368	0.279000	0.24239	0.676000	0.29932	0.702000	0.40608	-0.569000	0.05902	-0.023000	0.13963	0.533000	0.62120	CAT		0.428	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		7	155	0	0	0	1	0	7	155				
XIRP2	129446	broad.mit.edu	37	2	168106925	168106925	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:168106925T>A	ENST00000409195.1	+	9	9112	c.9023T>A	c.(9022-9024)gTa>gAa	p.V3008E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2833					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGAAAAAGTAAAAGAAGAA	0.333																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9022-9024)gTa>gAa		xin actin-binding repeat containing 2							65.0	65.0	65.0					2																	168106925		1833	4069	5902	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106925T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9023T>A	2.37:g.168106925T>A	ENSP00000386840:p.Val3008Glu		Somatic				XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	p.V3008E	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	9112	+			2833					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9023T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281317	0.59758	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02787	4.16;4.16;4.16	5.88	5.88	0.94601	.	0.362772	0.30940	N	0.008572	T	0.04861	0.0131	L	0.44542	1.39	0.35161	D	0.770687	P;P;P	0.49559	0.877;0.925;0.925	B;P;P	0.44990	0.276;0.466;0.466	T	0.53767	-0.8392	10	0.27082	T	0.32	-1.0103	15.2773	0.73750	0.0:0.0:0.0:1.0	.	2833;2833;2786	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	3008;3008;2786;422	ENSP00000386840:V3008E;ENSP00000295237:V3008E;ENSP00000387255:V2786E	ENSP00000295237:V3008E	V	+	2	0	XIRP2	167815171	0.973000	0.33851	0.981000	0.43875	0.919000	0.55068	4.106000	0.57804	2.253000	0.74438	0.455000	0.32223	GTA		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	137	0	0	0	1	0	5	137				
WSCD1	23302	broad.mit.edu	37	17	6023803	6023803	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:6023803T>A	ENST00000574946.1	+	9	1940	c.1550T>A	c.(1549-1551)cTg>cAg	p.L517Q	WSCD1_ENST00000574232.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.L401Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.L517Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	517						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAGGAGCGGCTGCTCTGCGTG	0.652																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1549-1551)cTg>cAg		WSC domain containing 1							73.0	70.0	71.0					17																	6023803		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:6023803T>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1550T>A	17.37:g.6023803T>A	ENSP00000460825:p.Leu517Gln		Somatic				WSCD1_ENST00000317744.5_Missense_Mutation_p.L517Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.L401Q	p.L517Q			WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			9	1940	+			517					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.1550T>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.765954	0.90020	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85556	-2.0;-2.0	5.54	5.54	0.83059	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93668	0.6987	10	0.87932	D	0	-20.955	13.6284	0.62181	0.0:0.0:0.0:1.0	.	517	Q658N2	WSCD1_HUMAN	Q	517	ENSP00000323087:L517Q;ENSP00000446032:L517Q	ENSP00000323087:L517Q	L	+	2	0	WSCD1	5964527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.668000	0.83897	2.107000	0.64212	0.533000	0.62120	CTG		0.652	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		33	70	0	0	0	1	0	33	70				
REV3L	5980	broad.mit.edu	37	6	111694792	111694792	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:111694792G>T	ENST00000358835.3	-	14	5220	c.4766C>A	c.(4765-4767)aCa>aAa	p.T1589K	REV3L_ENST00000435970.1_Missense_Mutation_p.T1511K|REV3L_ENST00000368805.1_Missense_Mutation_p.T1589K|REV3L_ENST00000368802.3_Missense_Mutation_p.T1589K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1589					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTTGTTTTGTACTTCTGGG	0.373								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4531-4533)aCa>aAa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							170.0	179.0	176.0					6																	111694792		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694792G>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4766C>A	6.37:g.111694792G>T	ENSP00000351697:p.Thr1589Lys		Somatic				REV3L_ENST00000368805.1_Missense_Mutation_p.T1589K|REV3L_ENST00000368802.3_Missense_Mutation_p.T1589K|REV3L_ENST00000358835.3_Missense_Mutation_p.T1589K	p.T1511K			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5348	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1589					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4532C>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532508	0.27387	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01464	4.95;4.95;4.95;4.86	6.04	6.04	0.98038	Ribonuclease H-like (1);	0.275213	0.35646	N	0.003075	T	0.01592	0.0051	L	0.59436	1.845	0.37459	D	0.915122	B	0.10296	0.003	B	0.10450	0.005	T	0.45512	-0.9256	10	0.72032	D	0.01	-2.1928	16.1208	0.81357	0.0:0.0:0.8658:0.1342	.	1589	O60673	DPOLZ_HUMAN	K	1589;1589;1589;1511	ENSP00000357792:T1589K;ENSP00000357795:T1589K;ENSP00000351697:T1589K;ENSP00000402003:T1511K	ENSP00000351697:T1589K	T	-	2	0	REV3L	111801485	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.999000	0.57031	2.873000	0.98535	0.563000	0.77884	ACA		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		6	288	1	0	4.1943e-16	1	4.45645e-16	6	288				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.e8-1		DDB1 and CUL4 associated factor 17							94.0	89.0	91.0					2																	172314880		1853	4098	5951	SO:0001630	splice_region_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314880A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.733-1A>T	2.37:g.172314880A>T			Somatic				DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron		NM_025000.3	NP_079276.2	WXS	Illumina GAIIx	Phase_I	Q5H9S7	DCA17_HUMAN			8	1059	+								B2RTW5|Q53TN3|Q9H908	Splice_Site	SNP	ENST00000375255.3	37		CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984850	0.74474	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6994	0.77533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF17	172023126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.192000	0.70111	0.477000	0.44152	.		0.358	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	Intron	10	179	0	0	0	1	0	10	179				
SYNJ2	8871	broad.mit.edu	37	6	158464376	158464376	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:158464376C>A	ENST00000355585.4	+	5	815	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S247Y|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S247Y|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S196Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	247	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGTGTCATCTTTTGTCCAG	0.493																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(739-741)tCt>tAt		synaptojanin 2							147.0	125.0	132.0					6																	158464376		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158464376C>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.740C>A	6.37:g.158464376C>A	ENSP00000347792:p.Ser247Tyr		Somatic				SYNJ2_ENST00000367121.3_Missense_Mutation_p.S247Y|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S196Y|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S247Y	p.S247Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	WXS	Illumina GAIIx	Phase_I	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	5	815	+			247			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.740C>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829122	0.90955	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.47	5.47	0.80525	Synaptojanin, N-terminal (2);	0.000000	0.53938	D	0.000051	D	0.91054	0.7185	H	0.99336	4.52	0.51767	D	0.999935	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.91939	0.5561	10	0.87932	D	0	.	18.2975	0.90151	0.0:1.0:0.0:0.0	.	196;247;247;247	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	Y	247;247;247;196	ENSP00000356089:S247Y;ENSP00000356088:S247Y;ENSP00000347792:S247Y;ENSP00000388371:S196Y	ENSP00000347792:S247Y	S	+	2	0	SYNJ2	158384364	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.458000	0.80787	-0.442000	0.07190	0.533000	0.62120	TCT		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			68	106	1	0	8.78091e-33	1	9.54669e-33	68	106				
PRB2	653247	broad.mit.edu	37	12	11546771	11546771	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:11546771G>C	ENST00000389362.4	-	3	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	81	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612																																						ENST00000389362.4																			2	Substitution - Missense(2)	p.P81A(1)|p.P60A(1)	urinary_tract(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(241-243)Cca>Gca		proline-rich protein BstNI subfamily 2							119.0	137.0	131.0					12																	11546771		2162	4222	6384	SO:0001583	missense	653247							g.chr12:11546771G>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.241C>G	12.37:g.11546771G>C	ENSP00000374013:p.Pro81Ala		Somatic				PRB1_ENST00000546254.1_Intron	p.P81A	NM_006248.3	NP_006239.3	WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	276	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.241C>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	7.105	0.574795	0.13623	.	.	ENSG00000121335	ENST00000389362	T	0.04275	3.66	1.69	-1.72	0.08107	.	924.301000	0.02017	U	0.047463	T	0.11281	0.0275	M	0.80982	2.52	0.27230	N	0.959422	D	0.64830	0.994	P	0.52217	0.693	T	0.49597	-0.8923	10	0.08179	T	0.78	.	4.3941	0.11355	0.0:0.2425:0.5138:0.2437	.	81	P02812	PRB2_HUMAN	A	81	ENSP00000374013:P81A	ENSP00000374013:P81A	P	-	1	0	PRB2	11438038	0.741000	0.28217	0.112000	0.21494	0.160000	0.22226	-0.004000	0.12878	-0.045000	0.13468	0.418000	0.28097	CCA		0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		5	658	0	0	0	1	0	5	658				
CCDC62	84660	broad.mit.edu	37	12	123273471	123273471	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:123273471T>A	ENST00000253079.6	+	5	1009	c.665T>A	c.(664-666)cTa>cAa	p.L222Q	CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	222					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTCAACAAACTAAAAGGTAAG	0.358																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(664-666)cTa>cAa		coiled-coil domain containing 62							82.0	79.0	80.0					12																	123273471		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123273471T>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.665T>A	12.37:g.123273471T>A	ENSP00000253079:p.Leu222Gln		Somatic				CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron	p.L222Q	NM_201435.4	NP_958843.2	WXS	Illumina GAIIx	Phase_I	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	5	1009	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		222					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.665T>A	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971625	0.53614	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.38722	1.12;1.12	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000094	T	0.62490	0.2432	M	0.71581	2.175	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.64980	-0.6279	10	0.56958	D	0.05	-9.4701	12.3693	0.55246	0.0:0.0:0.0:1.0	.	222;222	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	Q	222	ENSP00000253079:L222Q;ENSP00000376236:L222Q	ENSP00000253079:L222Q	L	+	2	0	CCDC62	121839424	0.927000	0.31430	0.012000	0.15200	0.685000	0.39939	4.218000	0.58554	2.179000	0.69175	0.533000	0.62120	CTA		0.358	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		4	50	0	0	0	1	0	4	50				
ITGA2	3673	broad.mit.edu	37	5	52337945	52337945	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:52337945A>T	ENST00000296585.5	+	3	332	c.189A>T	c.(187-189)ttA>ttT	p.L63F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	63					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTCTAGGTTACTGGTTGGTT	0.348																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(187-189)ttA>ttT		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							110.0	108.0	109.0					5																	52337945		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52337945A>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.189A>T	5.37:g.52337945A>T	ENSP00000296585:p.Leu63Phe		Somatic					p.L63F	NM_002203.3	NP_002194.2	WXS	Illumina GAIIx	Phase_I	P17301	ITA2_HUMAN			3	332	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	63					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.189A>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490060	0.44249	.	.	ENSG00000164171	ENST00000296585	T	0.77620	-1.11	5.41	1.51	0.23008	.	0.419352	0.22971	N	0.053434	D	0.83317	0.5228	M	0.76938	2.355	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.80410	-0.1394	10	0.59425	D	0.04	.	2.4505	0.04517	0.4417:0.0:0.3433:0.215	.	63	P17301	ITA2_HUMAN	F	63	ENSP00000296585:L63F	ENSP00000296585:L63F	L	+	3	2	ITGA2	52373702	0.998000	0.40836	1.000000	0.80357	0.138000	0.21146	0.457000	0.21875	0.874000	0.35823	0.533000	0.62120	TTA		0.348	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		4	100	0	0	0	1	0	4	100				
FGFR4	2264	broad.mit.edu	37	5	176524604	176524604	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:176524604A>C	ENST00000292408.4	+	18	2581	c.2336A>C	c.(2335-2337)gAt>gCt	p.D779A	FGFR4_ENST00000393637.1_Missense_Mutation_p.D739A|FGFR4_ENST00000292410.3_Missense_Mutation_p.D739A|FGFR4_ENST00000502906.1_Missense_Mutation_p.D779A|FGFR4_ENST00000393648.2_Missense_Mutation_p.D711A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	779					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TCCTCCAGCGATTCTGTCTTC	0.632										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(2335-2337)gAt>gCt		fibroblast growth factor receptor 4	Palifermin(DB00039)						115.0	86.0	96.0					5																	176524604		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176524604A>C	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2336A>C	5.37:g.176524604A>C	ENSP00000292408:p.Asp779Ala	TSP Lung(9;0.080)	Somatic				FGFR4_ENST00000393637.1_Missense_Mutation_p.D739A|FGFR4_ENST00000292410.3_Missense_Mutation_p.D739A|FGFR4_ENST00000502906.1_Missense_Mutation_p.D779A|FGFR4_ENST00000393648.2_Missense_Mutation_p.D711A	p.D779A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	WXS	Illumina GAIIx	Phase_I	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2581	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	779					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.2336A>C	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791637	0.50102	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	M	0.64997	1.995	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	D	0.91429	0.5164	10	0.87932	D	0	.	13.1893	0.59700	1.0:0.0:0.0:0.0	.	711;739;779	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	A	779;711;779;739;739;1007	ENSP00000292408:D779A;ENSP00000377259:D711A;ENSP00000424960:D779A;ENSP00000292410:D739A;ENSP00000377254:D739A	ENSP00000292408:D779A	D	+	2	0	FGFR4	176457210	1.000000	0.71417	0.947000	0.38551	0.307000	0.27823	9.097000	0.94193	1.952000	0.56665	0.379000	0.24179	GAT		0.632	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			66	77	0	0	0	1	0	66	77				
PSORS1C1	170679	broad.mit.edu	37	6	31084879	31084879	+	Intron	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:31084879C>G	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.G171G	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CAGAGCCATTCCCTACTTGGA	0.547																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(511-513)ggG>ggC		corneodesmosin							57.0	61.0	60.0					6																	31084879		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084879C>G	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2211C>G	6.37:g.31084879C>G			Somatic				PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.G171G	NM_001264.4	NP_001255.3	WXS	Illumina GAIIx	Phase_I	Q15517	CDSN_HUMAN			2	539	-			171			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.513G>C	CCDS34390.1																																																																																				0.547	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		33	67	0	0	0	1	0	33	67				
ITIH2	3698	broad.mit.edu	37	10	7786826	7786826	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:7786826A>T	ENST00000358415.4	+	19	2647	c.2481A>T	c.(2479-2481)ttA>ttT	p.L827F	ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	827					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCTGTTTTACTTCATCGTG	0.418																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2479-2481)ttA>ttT		inter-alpha-trypsin inhibitor heavy chain 2							152.0	141.0	145.0					10																	7786826		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786826A>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2481A>T	10.37:g.7786826A>T	ENSP00000351190:p.Leu827Phe		Somatic				ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	p.L827F	NM_002216.2	NP_002207.2	WXS	Illumina GAIIx	Phase_I	P19823	ITIH2_HUMAN			19	2647	+			827					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2481A>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666846	0.67814	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.16743	2.32;2.32	5.79	0.193	0.15139	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.37598	0.1009	M	0.86028	2.79	0.48236	D	0.999614	D	0.67145	0.996	D	0.70935	0.971	T	0.13098	-1.0522	10	0.87932	D	0	-8.9701	6.583	0.22605	0.3904:0.0:0.4775:0.1321	.	827	P19823	ITIH2_HUMAN	F	827;816	ENSP00000351190:L827F;ENSP00000368906:L816F	ENSP00000351190:L827F	L	+	3	2	ITIH2	7826832	0.997000	0.39634	0.965000	0.40720	0.859000	0.49053	0.372000	0.20467	0.022000	0.15160	0.482000	0.46254	TTA		0.418	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		4	71	0	0	0	1	0	4	71				
COL15A1	1306	broad.mit.edu	37	9	101765861	101765861	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:101765861G>A	ENST00000375001.3	+	8	1615	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	398	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGAGGAAGGGGTCACTCCAGT	0.607																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1192-1194)Gtc>Atc		collagen, type XV, alpha 1							51.0	54.0	53.0					9																	101765861		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101765861G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1192G>A	9.37:g.101765861G>A	ENSP00000364140:p.Val398Ile		Somatic					p.V398I	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			8	1615	+		Acute lymphoblastic leukemia(62;0.0562)	398			4 X tandem repeats.|Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1192G>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369280	0.24771	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89746	-2.56	3.77	-1.69	0.08186	.	1.815940	0.03549	N	0.225118	T	0.79695	0.4490	L	0.32530	0.975	0.09310	N	1	B	0.20887	0.049	B	0.15052	0.012	T	0.59974	-0.7353	10	0.23302	T	0.38	0.0033	1.2009	0.01884	0.206:0.3288:0.2974:0.1679	.	398	P39059	COFA1_HUMAN	I	398;368	ENSP00000364140:V398I	ENSP00000364140:V398I	V	+	1	0	COL15A1	100805682	0.000000	0.05858	0.000000	0.03702	0.570000	0.35934	-0.477000	0.06583	-0.348000	0.08286	0.561000	0.74099	GTC		0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		35	50	0	0	0	1	0	35	50				
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T	rs539491304		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1633-1635)acT>acA		tripartite motif containing 33							329.0	310.0	316.0					1																	114968131		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968131A>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1635T>A	1.37:g.114968131A>T			Somatic				TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	p.T545T	NM_015906.3	NP_056990.3	WXS	Illumina GAIIx	Phase_I	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1718	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	545			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1635T>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	A	1.505	-0.551091	0.03996	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	-7.91	0.01165	.	.	.	.	.	T	0.04861	0.0131	.	.	.	0.28657	N	0.906343	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-1.6547	0.3179	0.00298	0.3705:0.158:0.215:0.2564	.	.	.	.	Q	282	.	.	L	-	2	0	TRIM33	114769654	0.345000	0.24835	0.755000	0.31263	0.205000	0.24178	-0.705000	0.05052	-1.148000	0.02847	-1.721000	0.00707	CTA		0.428	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		7	644	0	0	0	1	0	7	644				
EPCAM	4072	broad.mit.edu	37	2	47600621	47600621	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:47600621C>T	ENST00000263735.4	+	2	454	c.96C>T	c.(94-96)taC>taT	p.Y32Y	EPCAM_ENST00000405271.1_Silent_p.Y60Y	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	32					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GTGAAAACTACAAGCTGGCCG	0.323																																						ENST00000263735.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						c.(94-96)taC>taT		epithelial cell adhesion molecule							81.0	74.0	76.0					2																	47600621		2203	4300	6503	SO:0001819	synonymous_variant	4072				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47600621C>T	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.96C>T	2.37:g.47600621C>T			Somatic				EPCAM_ENST00000405271.1_Silent_p.Y60Y	p.Y32Y	NM_002354.2	NP_002345.2	WXS	Illumina GAIIx	Phase_I	P16422	EPCAM_HUMAN			2	454	+			32					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Silent	SNP	ENST00000263735.4	37	c.96C>T	CCDS1833.1																																																																																				0.323	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			3	38	0	0	0	1	0	3	38				
DYSF	8291	broad.mit.edu	37	2	71909676	71909676	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:71909676T>A	ENST00000258104.3	+	54	6350	c.6073T>A	c.(6073-6075)Ttc>Atc	p.F2025I	DYSF_ENST00000394120.2_Missense_Mutation_p.F2026I|DYSF_ENST00000409366.1_Missense_Mutation_p.F2047I|DYSF_ENST00000410020.3_Missense_Mutation_p.F2064I|DYSF_ENST00000409582.3_Missense_Mutation_p.F2063I|DYSF_ENST00000409651.1_Missense_Mutation_p.F2057I|DYSF_ENST00000429174.2_Missense_Mutation_p.F2046I|DYSF_ENST00000410041.1_Missense_Mutation_p.F2043I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.F2056I|DYSF_ENST00000409744.1_Missense_Mutation_p.F2033I|DYSF_ENST00000409762.1_Missense_Mutation_p.F2042I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2025					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGACACCTCCTTCCTGTGGTT	0.547																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(6073-6075)Ttc>Atc		dysferlin							161.0	129.0	140.0					2																	71909676		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909676T>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6073T>A	2.37:g.71909676T>A	ENSP00000258104:p.Phe2025Ile		Somatic				DYSF_ENST00000413539.2_Missense_Mutation_p.F2056I|DYSF_ENST00000410020.3_Missense_Mutation_p.F2064I|DYSF_ENST00000410041.1_Missense_Mutation_p.F2043I|DYSF_ENST00000409651.1_Missense_Mutation_p.F2057I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.F2026I|DYSF_ENST00000409582.3_Missense_Mutation_p.F2063I|DYSF_ENST00000409366.1_Missense_Mutation_p.F2047I|DYSF_ENST00000409744.1_Missense_Mutation_p.F2033I|DYSF_ENST00000429174.2_Missense_Mutation_p.F2046I|DYSF_ENST00000409762.1_Missense_Mutation_p.F2042I	p.F2025I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			54	6350	+			2025					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.6073T>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	31	5.087711	0.94100	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	M	0.90309	3.105	0.58432	D	0.999997	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.997;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.99;0.999;0.97;0.998;0.999;0.999;0.997	D	0.94368	0.7593	10	0.87932	D	0	-25.343	13.1302	0.59377	0.0:0.0:0.0:1.0	.	789;2057;2064;2047;2012;2043;2033;2042;2032;2056;2063;2046;2011;2026;2025	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	I	2056;2042;2063;2046;2025;2057;2026;2033;2047;2064;2043	ENSP00000407046:F2056I;ENSP00000387137:F2042I;ENSP00000386547:F2063I;ENSP00000398305:F2046I;ENSP00000258104:F2025I;ENSP00000386683:F2057I;ENSP00000377678:F2026I;ENSP00000386285:F2033I;ENSP00000386512:F2047I;ENSP00000386881:F2064I;ENSP00000386617:F2043I	ENSP00000258104:F2025I	F	+	1	0	DYSF	71763184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.971000	0.88012	2.034000	0.60081	0.533000	0.62120	TTC		0.547	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		123	390	0	0	0	1	0	123	390				
ZNF75D	7626	broad.mit.edu	37	X	134421295	134421295	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:134421295A>T	ENST00000370766.3	-	7	4016	c.1307T>A	c.(1306-1308)cTa>cAa	p.L436Q	ZNF75D_ENST00000370764.1_Missense_Mutation_p.L341Q|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	436					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTGTGTGTGTAGATTTGTGTT	0.378																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1306-1308)cTa>cAa		zinc finger protein 75D							177.0	148.0	158.0					X																	134421295		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421295A>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1307T>A	X.37:g.134421295A>T	ENSP00000359802:p.Leu436Gln		Somatic				ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.L341Q	p.L436Q	NM_007131.3	NP_009062.2	WXS	Illumina GAIIx	Phase_I	P51815	ZN75D_HUMAN			7	4016	-			436					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.1307T>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786577	0.49997	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.14144	2.53;2.53	2.87	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28641	N	0.014633	T	0.47948	0.1473	H	0.97659	4.05	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47959	-0.9076	10	0.87932	D	0	.	8.6148	0.33824	1.0:0.0:0.0:0.0	.	436;341	P51815;A6NK62	ZN75D_HUMAN;.	Q	436;341	ENSP00000359802:L436Q;ENSP00000359800:L341Q	ENSP00000359800:L341Q	L	-	2	0	ZNF75D	134248961	0.985000	0.35326	0.038000	0.18304	0.872000	0.50106	7.568000	0.82369	1.376000	0.46267	0.345000	0.21793	CTA		0.378	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		5	290	0	0	0	1	0	5	290				
HEPHL1	341208	broad.mit.edu	37	11	93815589	93815589	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:93815589A>G	ENST00000315765.9	+	10	1730	c.1722A>G	c.(1720-1722)ggA>ggG	p.G574G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	574	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTAGAAAGGAATAGACAAGG	0.343																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1720-1722)ggA>ggG		hephaestin-like 1							72.0	66.0	68.0					11																	93815589		1825	4087	5912	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93815589A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1722A>G	11.37:g.93815589A>G			Somatic					p.G574G	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			10	1730	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	574			Plastocyanin-like 4.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.1722A>G	CCDS44710.1																																																																																				0.343	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		7	67	0	0	0	1	0	7	67				
CALML4	91860	broad.mit.edu	37	15	68489912	68489912	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:68489912A>T	ENST00000467889.1	-	4	543	c.359T>A	c.(358-360)aTa>aAa	p.I120K	CALML4_ENST00000395465.3_Intron|CALML4_ENST00000448060.2_Missense_Mutation_p.I73K|RP11-315D16.2_ENST00000562767.1_Missense_Mutation_p.N46K|CALML4_ENST00000540479.1_Missense_Mutation_p.I44K	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	120	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTCTTGTTTTATTTGCATGTG	0.453																																						ENST00000448060.2																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(217-219)aTa>aAa		calmodulin-like 4							128.0	118.0	121.0					15																	68489912		1871	4103	5974	SO:0001583	missense	91860						calcium ion binding	g.chr15:68489912A>T	AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"""EF-hand domain containing"""	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.359T>A	15.37:g.68489912A>T	ENSP00000419081:p.Ile120Lys		Somatic				RP11-315D16.2_ENST00000562767.1_Missense_Mutation_p.N46K|CALML4_ENST00000540479.1_Missense_Mutation_p.I44K|CALML4_ENST00000467889.1_Missense_Mutation_p.I120K|CALML4_ENST00000395465.3_Intron	p.I73K	NM_001031733.2	NP_001026903.2	WXS	Illumina GAIIx	Phase_I	Q96GE6	CALL4_HUMAN			3	329	-			120			EF-hand 1.		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Missense_Mutation	SNP	ENST00000467889.1	37	c.218T>A	CCDS10226.2	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701186	0.68501	.	.	ENSG00000129007	ENST00000478113;ENST00000448060;ENST00000395463;ENST00000540479;ENST00000467889	T;T;T	0.79247	-1.25;1.22;1.22	4.88	3.71	0.42584	EF-hand-like domain (1);	0.323643	0.39341	N	0.001392	T	0.72028	0.3410	L	0.41961	1.31	0.50313	D	0.999862	P;P	0.49090	0.919;0.698	P;B	0.46825	0.528;0.164	T	0.71580	-0.4550	10	0.87932	D	0	-8.1969	6.922	0.24393	0.6942:0.1562:0.0:0.1496	.	73;120	F8W6Y4;Q96GE6	.;CALL4_HUMAN	K	5;73;5;44;120	ENSP00000400755:I73K;ENSP00000438177:I44K;ENSP00000419081:I120K	ENSP00000435285:I5K	I	-	2	0	CALML4	66276966	0.971000	0.33674	0.487000	0.27428	0.991000	0.79684	3.942000	0.56614	0.773000	0.33404	0.402000	0.26972	ATA		0.453	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429		5	153	0	0	0	1	0	5	153				
SERPINB3	6317	broad.mit.edu	37	18	61328387	61328387	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:61328387A>T	ENST00000283752.5	-	2	207	c.64T>A	c.(64-66)Tca>Aca	p.S22T	SERPINB3_ENST00000332821.8_Missense_Mutation_p.S22T|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	22					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTCTCTTTTGATTTTCTGAAC	0.428																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(64-66)Tca>Aca		serpin peptidase inhibitor, clade B (ovalbumin), member 3							291.0	254.0	266.0					18																	61328387		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328387A>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.64T>A	18.37:g.61328387A>T	ENSP00000283752:p.Ser22Thr		Somatic				SERPINB3_ENST00000332821.8_Missense_Mutation_p.S22T|SERPINB11_ENST00000489748.1_RNA	p.S22T	NM_006919.2	NP_008850.1	WXS	Illumina GAIIx	Phase_I	P29508	SPB3_HUMAN			2	207	-			22					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.64T>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	A	5.231	0.228182	0.09916	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84660	-1.88;-1.88	3.13	3.13	0.36017	Serpin domain (3);	2.634120	0.01835	N	0.034980	D	0.85961	0.5819	L	0.54965	1.715	0.09310	N	1	B;B;P;B;B	0.40534	0.071;0.002;0.72;0.002;0.002	B;B;P;B;B	0.49477	0.192;0.015;0.612;0.015;0.015	T	0.69895	-0.5021	10	0.21540	T	0.41	.	3.8973	0.09144	0.4771:0.1846:0.0:0.3383	.	22;22;22;22;22	B3W5Y6;A8K847;P29508-2;P29508;Q5K684	.;.;.;SPB3_HUMAN;.	T	22	ENSP00000283752:S22T;ENSP00000329498:S22T	ENSP00000283752:S22T	S	-	1	0	SERPINB3	59479367	0.000000	0.05858	0.004000	0.12327	0.031000	0.12232	-0.533000	0.06157	1.678000	0.50952	0.374000	0.22700	TCA		0.428	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		8	695	0	0	0	1	0	8	695				
AJUBA	84962	broad.mit.edu	37	14	23445729	23445729	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:23445729T>A	ENST00000262713.2	-	4	1552		c.e4-2		AJUBA_ENST00000361265.4_Splice_Site|AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein						calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCCTGAAAACTAAAGTAAAAG	0.453																																						ENST00000262713.2																			0											c.e4-2		ajuba LIM protein							139.0	148.0	145.0					14																	23445729		2203	4300	6503	SO:0001630	splice_region_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445729T>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1177-2A>T	14.37:g.23445729T>A			Somatic				RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Splice_Site|AJUBA_ENST00000361265.4_Splice_Site		NM_032876.4	NP_116265.1	WXS	Illumina GAIIx	Phase_I	Q96IF1	JUB_HUMAN			4	1552	-								A8MX18|D3DS37	Splice_Site	SNP	ENST00000262713.2	37		CCDS9581.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589107	0.66105	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6896	0.62537	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	JUB	22515569	1.000000	0.71417	0.925000	0.36789	0.783000	0.44284	7.311000	0.78958	2.126000	0.65437	0.482000	0.46254	.		0.453	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		Intron	5	227	0	0	0	1	0	5	227				
PTPRO	5800	broad.mit.edu	37	12	15669843	15669843	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:15669843A>G	ENST00000281171.4	+	9	2062	c.1732A>G	c.(1732-1734)Acc>Gcc	p.T578A	PTPRO_ENST00000543886.1_Missense_Mutation_p.T578A|PTPRO_ENST00000348962.2_Missense_Mutation_p.T578A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	578	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATCAGAGTGGACCACCTACTA	0.443																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1732-1734)Acc>Gcc		protein tyrosine phosphatase, receptor type, O							246.0	207.0	220.0					12																	15669843		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669843A>G	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1732A>G	12.37:g.15669843A>G	ENSP00000281171:p.Thr578Ala		Somatic				PTPRO_ENST00000543886.1_Missense_Mutation_p.T578A|PTPRO_ENST00000348962.2_Missense_Mutation_p.T578A	p.T578A	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			9	2062	+		Hepatocellular(102;0.244)	578			Fibronectin type-III 6.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1732A>G	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525048	0.85600	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04015	3.74;3.73	5.17	5.17	0.71159	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.133537	0.34628	N	0.003812	T	0.06462	0.0166	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46512	0.879;0.807;0.807	P;B;B	0.45639	0.488;0.294;0.294	T	0.44081	-0.9351	10	0.44086	T	0.13	.	15.1779	0.72931	1.0:0.0:0.0:0.0	.	578;578;578	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	A	578	ENSP00000281171:T578A;ENSP00000343434:T578A	ENSP00000281171:T578A	T	+	1	0	PTPRO	15561110	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.388000	0.90170	2.160000	0.67779	0.519000	0.50382	ACC		0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			9	1134	0	0	0	1	0	9	1134				
PKP2	5318	broad.mit.edu	37	12	32996166	32996166	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:32996166T>C	ENST00000070846.6	-	6	1484	c.1460A>G	c.(1459-1461)cAa>cGa	p.Q487R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	487					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ccgcccgccttggcctcccaa	0.532																																						ENST00000070846.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1459-1461)cAa>cGa		plakophilin 2							32.0	32.0	32.0					12																	32996166		2203	4296	6499	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996166T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1460A>G	12.37:g.32996166T>C	ENSP00000070846:p.Gln487Arg		Somatic				PKP2_ENST00000340811.4_Intron	p.Q487R	NM_004572.3	NP_004563.2	WXS	Illumina GAIIx	Phase_I	Q99959	PKP2_HUMAN			6	1484	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		487					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1460A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.786271	0.00628	.	.	ENSG00000057294	ENST00000070846;ENST00000537278	T	0.52057	0.68	0.51	-1.02	0.10135	Armadillo-type fold (1);	.	.	.	.	T	0.19127	0.0459	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	8	0.11182	T	0.66	.	.	.	.	.	487	Q99959	PKP2_HUMAN	R	487	ENSP00000070846:Q487R	ENSP00000070846:Q487R	Q	-	2	0	PKP2	32887433	0.006000	0.16342	0.003000	0.11579	0.004000	0.04260	-1.390000	0.02528	-1.723000	0.01375	-1.843000	0.00578	CAA		0.532	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		2	25	0	0	0	1	0	2	25				
OR9G1	390174	broad.mit.edu	37	11	56468430	56468430	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:56468430C>T	ENST00000312153.1	+	1	567	c.567C>T	c.(565-567)ggC>ggT	p.G189G		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGCCTGTGGCGAGAAGGGCG	0.473																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(565-567)ggC>ggT		olfactory receptor, family 9, subfamily G, member 1							114.0	116.0	115.0					11																	56468430		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468430C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.567C>T	11.37:g.56468430C>T			Somatic					p.G189G	NM_001005213.1	NP_001005213.1	WXS	Illumina GAIIx	Phase_I					1	567	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.567C>T	CCDS31536.1																																																																																				0.473	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		20	158	0	0	0	1	0	20	158				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000456731.2_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	12	87	0	0	0	1	0	12	87				
SPATA5	166378	broad.mit.edu	37	4	123855337	123855337	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:123855337G>A	ENST00000274008.4	+	5	660	c.591G>A	c.(589-591)ggG>ggA	p.G197G	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	197					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAGTGAAAGGGGCAGATGGCA	0.463																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(589-591)ggG>ggA		spermatogenesis associated 5							94.0	90.0	91.0					4																	123855337		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855337G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.591G>A	4.37:g.123855337G>A			Somatic				SPATA5_ENST00000422835.2_3'UTR	p.G197G	NM_145207.2	NP_660208.2	WXS	Illumina GAIIx	Phase_I	Q8NB90	SPAT5_HUMAN			5	660	+			197					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.591G>A	CCDS3730.1																																																																																				0.463	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		15	111	0	0	0	1	0	15	111				
FBXO9	26268	broad.mit.edu	37	6	52943655	52943655	+	Silent	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:52943655T>C	ENST00000244426.6	+	4	568	c.396T>C	c.(394-396)acT>acC	p.T132T	FBXO9_ENST00000370939.3_Silent_p.T88T|FBXO9_ENST00000323557.7_Silent_p.T122T	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	132					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TCAAGATTACTTATACCCGGT	0.363																																						ENST00000244426.6																			0				kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9						c.(394-396)acT>acC		F-box protein 9							125.0	117.0	119.0					6																	52943655		1868	4096	5964	SO:0001819	synonymous_variant	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52943655T>C	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.396T>C	6.37:g.52943655T>C			Somatic				FBXO9_ENST00000370939.3_Silent_p.T88T|FBXO9_ENST00000323557.7_Silent_p.T122T	p.T132T	NM_012347.4	NP_036479.1	WXS	Illumina GAIIx	Phase_I	Q9UK97	FBX9_HUMAN			4	568	+	Lung NSC(77;0.103)		132					A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Silent	SNP	ENST00000244426.6	37	c.396T>C	CCDS55023.1																																																																																				0.363	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			14	26	0	0	0	1	0	14	26				
CES2	8824	broad.mit.edu	37	16	66976070	66976070	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:66976070C>G	ENST00000317091.4	+	9	2376	c.1392C>G	c.(1390-1392)ccC>ccG	p.P464P	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.P464P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	400					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	ATGGGGATCCCCAGACCCTCC	0.527																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1390-1392)ccC>ccG		carboxylesterase 2							129.0	103.0	112.0					16																	66976070		2200	4300	6500	SO:0001819	synonymous_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66976070C>G	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1392C>G	16.37:g.66976070C>G			Somatic				CES2_ENST00000417689.1_Silent_p.P464P	p.P464P	NM_003869.5	NP_003860.2	WXS	Illumina GAIIx	Phase_I	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	9	2376	+		Ovarian(137;0.0563)	400					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	ENST00000317091.4	37	c.1392C>G	CCDS10825.1																																																																																				0.527	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		36	63	0	0	0	1	0	36	63				
ITGA1	3672	broad.mit.edu	37	5	52160595	52160595	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:52160595A>T	ENST00000282588.6	+	4	753		c.e4-1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTATTTTTAGTTAATACAT	0.328																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e4-1		integrin, alpha 1							54.0	57.0	56.0					5																	52160595		2202	4298	6500	SO:0001630	splice_region_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52160595A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.296-1A>T	5.37:g.52160595A>T			Somatic						NM_181501.1	NP_852478.1	WXS	Illumina GAIIx	Phase_I	P56199	ITA1_HUMAN			4	753	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)						B2RNU0	Splice_Site	SNP	ENST00000282588.6	37		CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149212	0.57151	.	.	ENSG00000213949	ENST00000282588	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9183	0.79539	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA1	52196352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.321000	0.72881	2.211000	0.71520	0.477000	0.44152	.		0.328	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	Intron	6	39	0	0	0	1	0	6	39				
ZNF256	10172	broad.mit.edu	37	19	58452847	58452847	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:58452847T>G	ENST00000282308.3	-	3	1525	c.1329A>C	c.(1327-1329)ttA>ttC	p.L443F	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	443					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TCCTGCTAAATAATTTTCCAC	0.378																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1327-1329)ttA>ttC		zinc finger protein 256							72.0	68.0	69.0					19																	58452847		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452847T>G	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1329A>C	19.37:g.58452847T>G	ENSP00000282308:p.Leu443Phe		Somatic				ZNF256_ENST00000598928.1_3'UTR	p.L443F	NM_005773.2	NP_005764.2	WXS	Illumina GAIIx	Phase_I	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1525	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	443					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.1329A>C	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	11.35	1.611927	0.28712	.	.	ENSG00000152454	ENST00000282308	T	0.15487	2.42	2.84	-2.9	0.05648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	N	0.12637	0.245	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.33523	-0.9865	9	0.54805	T	0.06	.	1.2967	0.02071	0.5261:0.1311:0.1325:0.2102	.	443	Q9Y2P7	ZN256_HUMAN	F	443	ENSP00000282308:L443F	ENSP00000282308:L443F	L	-	3	2	ZNF256	63144659	0.713000	0.27926	0.001000	0.08648	0.978000	0.69477	-0.778000	0.04664	-0.473000	0.06871	0.383000	0.25322	TTA		0.378	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			5	125	0	0	0	1	0	5	125				
DDHD2	23259	broad.mit.edu	37	8	38110238	38110238	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:38110238A>T	ENST00000397166.2	+	14	2142		c.e14-1		DDHD2_ENST00000517385.1_Splice_Site|DDHD2_ENST00000520272.2_Splice_Site|DDHD2_ENST00000529845.1_Intron	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2						cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTTCCTATGTAGTTTGATCCT	0.418																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.e14-1		DDHD domain containing 2							126.0	112.0	117.0					8																	38110238		2203	4300	6503	SO:0001630	splice_region_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38110238A>T	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1618-1A>T	8.37:g.38110238A>T			Somatic				DDHD2_ENST00000520272.2_Splice_Site|DDHD2_ENST00000517385.1_Splice_Site|DDHD2_ENST00000529845.1_Intron		NM_015214.2	NP_056029.2	WXS	Illumina GAIIx	Phase_I	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		14	2142	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)						B3KWV2|B3KXB5|Q9H8X7	Splice_Site	SNP	ENST00000397166.2	37		CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910967	0.72983	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000526144	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7906	0.69841	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDHD2	38229395	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	8.665000	0.91144	2.143000	0.66587	0.260000	0.18958	.		0.418	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291	Intron	5	45	0	0	0	1	0	5	45				
PNO1	56902	broad.mit.edu	37	2	68389676	68389676	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:68389676A>T	ENST00000263657.2	+	5	593		c.e5-1		RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)							nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TTTCTTGTTTAGTTAAACCCC	0.403																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.e5-1		partner of NOB1 homolog (S. cerevisiae)							54.0	54.0	54.0					2																	68389676		2203	4300	6503	SO:0001630	splice_region_variant	56902					nucleolus	RNA binding	g.chr2:68389676A>T	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.503-1A>T	2.37:g.68389676A>T			Somatic						NM_020143.2	NP_064528.1	WXS	Illumina GAIIx	Phase_I	Q9NRX1	PNO1_HUMAN			5	593	+								A8K6Q0|Q53G13|Q8WVB8	Splice_Site	SNP	ENST00000263657.2	37		CCDS1885.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900827	0.33535	.	.	ENSG00000115946	ENST00000263657	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8008	0.23750	0.666:0.1316:0.0:0.2024	.	.	.	.	.	-1	.	.	.	+	.	.	PNO1	68243180	1.000000	0.71417	0.964000	0.40570	0.562000	0.35680	9.050000	0.93843	1.933000	0.56026	0.528000	0.53228	.		0.403	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143	Intron	4	91	0	0	0	1	0	4	91				
BACE2	25825	broad.mit.edu	37	21	42598262	42598262	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:42598262A>T	ENST00000330333.6	+	2	845	c.382A>T	c.(382-384)Acg>Tcg	p.T128S	BACE2_ENST00000347667.5_Missense_Mutation_p.T128S|BACE2_ENST00000328735.6_Missense_Mutation_p.T128S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	128					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTACATAGACACGTACTTTGA	0.488																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(382-384)Acg>Tcg		beta-site APP-cleaving enzyme 2							103.0	96.0	98.0					21																	42598262		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42598262A>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.382A>T	21.37:g.42598262A>T	ENSP00000332979:p.Thr128Ser		Somatic				BACE2_ENST00000328735.6_Missense_Mutation_p.T128S|BACE2_ENST00000347667.4_Missense_Mutation_p.T128S	p.T128S	NM_012105.3	NP_036237.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Z0	BACE2_HUMAN			2	845	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	128					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.382A>T	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.977605	0.00452	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.40476	1.03;1.03;1.03	4.74	-6.91	0.01649	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.636280	0.16669	N	0.204425	T	0.12305	0.0299	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.29119	-1.0022	10	0.08381	T	0.77	.	7.7726	0.29017	0.639:0.0:0.1175:0.2435	.	128;128;128	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	S	128;128;128;33	ENSP00000332979:T128S;ENSP00000327528:T128S;ENSP00000333854:T128S	ENSP00000333854:T128S	T	+	1	0	BACE2	41520132	0.103000	0.21917	0.023000	0.16930	0.034000	0.12701	0.177000	0.16801	-1.645000	0.01515	-0.464000	0.05259	ACG		0.488	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			47	145	0	0	0	1	0	47	145				
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	798					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTTCTTGGTTACTTGCTGAAT	0.458																																						ENST00000263805.4																			0											c.(2392-2394)gTa>gAa		zinc finger protein 106							198.0	191.0	194.0					15																	42742008		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742008A>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2393T>A	15.37:g.42742008A>T	ENSP00000263805:p.Val798Glu		Somatic				ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.V798E	NM_022473.1	NP_071918.1	WXS	Illumina GAIIx	Phase_I					2	2719	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2393T>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254848	0.80135	.	.	ENSG00000103994	ENST00000263805	T	0.57107	0.42	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.70500	0.3231	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.973	T	0.73408	-0.3992	10	0.87932	D	0	-17.0572	16.1811	0.81903	1.0:0.0:0.0:0.0	.	581;798	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	E	798	ENSP00000263805:V798E	ENSP00000263805:V798E	V	-	2	0	ZFP106	40529300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	2.218000	0.71995	0.528000	0.53228	GTA		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		11	406	0	0	0	1	0	11	406				
CLEC6A	93978	broad.mit.edu	37	12	8629914	8629914	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:8629914A>T	ENST00000382073.3	+	6	671		c.e6-1			NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A						defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GTTTTCCTTTAGATTTTGGCA	0.403																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.e6-1		C-type lectin domain family 6, member A							144.0	135.0	138.0					12																	8629914		2203	4300	6503	SO:0001630	splice_region_variant	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8629914A>T	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.486-1A>T	12.37:g.8629914A>T			Somatic						NM_001007033.1	NP_001007034.1	WXS	Illumina GAIIx	Phase_I	Q6EIG7	CLC6A_HUMAN			6	671	+	Lung SC(5;0.184)							A2RUK3	Splice_Site	SNP	ENST00000382073.3	37		CCDS31739.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557091	0.27827	.	.	ENSG00000205846	ENST00000382073	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5056	0.33186	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLEC6A	8521181	0.771000	0.28555	0.729000	0.30791	0.042000	0.13812	1.237000	0.32695	1.784000	0.52394	0.533000	0.62120	.		0.403	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033	Intron	5	270	0	0	0	1	0	5	270				
PCDHGA3	56112	broad.mit.edu	37	5	140724196	140724196	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:140724196C>T	ENST00000253812.6	+	1	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	199	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A199V(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGCGGGCCCTGGACCGT	0.542																																						ENST00000253812.6																			1	Substitution - Missense(1)	p.A199V(1)	endometrium(1)	breast(1)	1						c.(595-597)gCc>gTc									55.0	58.0	57.0					5																	140724196		2117	4255	6372	SO:0001583	missense	56112							g.chr5:140724196C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.596C>T	5.37:g.140724196C>T	ENSP00000253812:p.Ala199Val		Somatic				PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A199V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	596	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.596C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	4.235	0.042492	0.08196	.	.	ENSG00000254245	ENST00000253812	T	0.20332	2.08	5.65	3.86	0.44501	Cadherin (3);Cadherin-like (1);	0.255401	0.19796	U	0.105879	T	0.19644	0.0472	L	0.60455	1.87	0.09310	N	1	B;B	0.25850	0.136;0.021	B;B	0.23852	0.049;0.033	T	0.12091	-1.0561	10	0.37606	T	0.19	.	7.7587	0.28940	0.1339:0.7231:0.0:0.143	.	199;199	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	199	ENSP00000253812:A199V	ENSP00000253812:A199V	A	+	2	0	PCDHGA3	140704380	0.001000	0.12720	0.079000	0.20413	0.035000	0.12851	1.502000	0.35704	1.533000	0.49186	-0.137000	0.14449	GCC		0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		36	139	0	0	0	1	0	36	139				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Somatic				ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	p.T188S	NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		9	173	0	0	0	1	0	9	173				
KIAA0232	9778	broad.mit.edu	37	4	6826207	6826207	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:6826207G>A	ENST00000307659.5	+	3	482	c.27G>A	c.(25-27)gtG>gtA	p.V9V	KIAA0232_ENST00000425103.1_Silent_p.V9V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	9							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAGTTGTTGTGGATGGTTTGC	0.453																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(25-27)gtG>gtA		KIAA0232							224.0	211.0	215.0					4																	6826207		1918	4133	6051	SO:0001819	synonymous_variant	9778						ATP binding	g.chr4:6826207G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.27G>A	4.37:g.6826207G>A			Somatic				KIAA0232_ENST00000425103.1_Silent_p.V9V	p.V9V	NM_014743.2	NP_055558.2	WXS	Illumina GAIIx	Phase_I	Q92628	K0232_HUMAN			3	482	+			9					A7E2D2	Silent	SNP	ENST00000307659.5	37	c.27G>A	CCDS43209.1																																																																																				0.453	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		4	265	0	0	0	1	0	4	265				
FRMD1	79981	broad.mit.edu	37	6	168457860	168457860	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:168457860C>A	ENST00000283309.6	-	11	1631	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	FRMD1_ENST00000440994.2_Missense_Mutation_p.A455S|FRMD1_ENST00000537786.1_Missense_Mutation_p.A294S|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	523						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGAGTGGCCCTGGTCTCG	0.667																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(1567-1569)Gcc>Tcc		FERM domain containing 1							40.0	34.0	36.0					6																	168457860		2200	4295	6495	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168457860C>A		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1567G>T	6.37:g.168457860C>A	ENSP00000283309:p.Ala523Ser		Somatic				FRMD1_ENST00000440994.2_Missense_Mutation_p.A455S|FRMD1_ENST00000537786.1_Missense_Mutation_p.A294S|FRMD1_ENST00000432403.1_5'UTR	p.A523S	NM_024919.3	NP_079195.3	WXS	Illumina GAIIx	Phase_I	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	11	1631	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	523					B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.1567G>T	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	C	5.574	0.290805	0.10567	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.40225	1.04;1.04;1.04	3.1	-3.42	0.04825	.	0.528864	0.11978	N	0.511057	T	0.06735	0.0172	N	0.16478	0.41	0.20638	N	0.999878	B;B;B;B	0.24721	0.057;0.11;0.095;0.057	B;B;B;B	0.22386	0.006;0.039;0.022;0.006	T	0.33548	-0.9864	10	0.22706	T	0.39	.	4.4395	0.11566	0.3173:0.4121:0.0:0.2706	.	458;523;455;418	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	S	523;455;294	ENSP00000283309:A523S;ENSP00000414115:A455S;ENSP00000440078:A294S	ENSP00000283309:A523S	A	-	1	0	FRMD1	168200709	0.251000	0.23961	0.000000	0.03702	0.013000	0.08279	0.204000	0.17335	-0.706000	0.05028	-0.373000	0.07131	GCC		0.667	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		3	5	1	0	0.00024832	1	0.000256552	3	5				
UGT1A6	54578	broad.mit.edu	37	2	234602415	234602415	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:234602415A>T	ENST00000305139.6	+	1	904	c.765A>T	c.(763-765)ttA>ttT	p.L255F	UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_De_novo_Start_OutOfFrame	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	255					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|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)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTTGGCTGTTAAGATATGACT	0.408																																						ENST00000406651.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22															297.0	307.0	304.0					2																	234602415		2203	4300	6503	SO:0001583	missense	54578							g.chr2:234602415A>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.765A>T	2.37:g.234602415A>T	ENSP00000303174:p.Leu255Phe		Somatic				UGT1A6_ENST00000480628.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Missense_Mutation_p.L255F|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron				WXS	Illumina GAIIx	Phase_I				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	0	78	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						A6NKK6|B8K289|Q96TE7	Translation_Start_Site	SNP	ENST00000305139.6	37		CCDS2507.1	.	.	.	.	.	.	.	.	.	.	A	9.038	0.989086	0.18966	.	.	ENSG00000167165	ENST00000305139	T	0.64991	-0.13	5.11	-3.03	0.05429	.	.	.	.	.	T	0.49490	0.1560	L	0.45744	1.44	0.50039	D	0.999849	B;B	0.21147	0.052;0.011	B;B	0.27887	0.057;0.084	T	0.26224	-1.0109	9	0.33940	T	0.23	.	7.8744	0.29584	0.2002:0.2896:0.5102:0.0	.	255;255	B8K289;P19224	.;UD16_HUMAN	F	255	ENSP00000303174:L255F	ENSP00000303174:L255F	L	+	3	2	UGT1A6	234267154	0.109000	0.22037	0.056000	0.19401	0.477000	0.33069	-0.433000	0.06948	-0.410000	0.07542	0.533000	0.62120	TTA		0.408	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		10	1433	0	0	0	1	0	10	1433				
STAG3	10734	broad.mit.edu	37	7	99801730	99801730	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:99801730G>A	ENST00000426455.1	+	26	3194	c.2787G>A	c.(2785-2787)ctG>ctA	p.L929L	STAG3_ENST00000394018.2_Silent_p.L871L|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Silent_p.L929L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	929					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCCTGCTGCTGAGCCTCA	0.498																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2785-2787)ctG>ctA		stromal antigen 3							140.0	112.0	122.0					7																	99801730		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99801730G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2787G>A	7.37:g.99801730G>A			Somatic				STAG3_ENST00000394018.2_Silent_p.L871L|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.L929L|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	p.L929L			WXS	Illumina GAIIx	Phase_I	Q9UJ98	STAG3_HUMAN			26	3194	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		929					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.2787G>A	CCDS34703.1																																																																																				0.498	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		91	225	0	0	0	1	0	91	225				
COL12A1	1303	broad.mit.edu	37	6	75827250	75827250	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:75827250A>T	ENST00000322507.8	-	47	7676	c.7367T>A	c.(7366-7368)tTt>tAt	p.F2456Y	COL12A1_ENST00000416123.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1292Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2456	Nonhelical region (NC3).|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCAACTACAAAGACACTGAA	0.393																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7366-7368)tTt>tAt		collagen, type XII, alpha 1							100.0	99.0	99.0					6																	75827250		1985	4166	6151	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75827250A>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7367T>A	6.37:g.75827250A>T	ENSP00000325146:p.Phe2456Tyr		Somatic				COL12A1_ENST00000416123.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1292Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.F2456Y	p.F2456Y	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	Q99715	COCA1_HUMAN			47	7676	-			2456			Nonhelical region (NC3).|VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7367T>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.922469	0.92319	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.91	5.91	0.95273	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88340	0.6410	L	0.49571	1.57	0.52099	D	0.999949	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.88575	0.3132	10	0.48119	T	0.1	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1292;2456	Q99715-2;Q99715	.;COCA1_HUMAN	Y	2456;94;2456;1292;2456;2456;10	ENSP00000325146:F2456Y;ENSP00000399812:F94Y;ENSP00000305147:F1292Y;ENSP00000412864:F2456Y;ENSP00000421216:F2456Y;ENSP00000423423:F10Y	ENSP00000325146:F2456Y	F	-	2	0	COL12A1	75883970	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	TTT		0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		35	84	0	0	0	1	0	35	84				
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e77-1		hemicentin 1							70.0	69.0	70.0					1																	186086589		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186086589A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11684-1A>T	1.37:g.186086589A>T			Somatic				HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			77	11912	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669800	0.88348	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8909	0.79296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184353212	1.000000	0.71417	0.969000	0.41365	0.967000	0.64934	9.339000	0.96797	2.146000	0.66826	0.533000	0.62120	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	5	94	0	0	0	1	0	5	94				
MGAM	8972	broad.mit.edu	37	7	141758001	141758001	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:141758001A>T	ENST00000549489.2	+	31	3788		c.e31-1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTATTTTCTAGTTGATTGGC	0.428																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e31-1		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						248.0	236.0	239.0					7																	141758001		1872	4100	5972	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141758001A>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3694-1A>T	7.37:g.141758001A>T			Somatic				MGAM_ENST00000549489.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			31	3747	+	Melanoma(164;0.0272)							Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37		CCDS47727.1	.	.	.	.	.	.	.	.	.	.	a	13.44	2.236785	0.39498	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4529	0.50164	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141404470	1.000000	0.71417	0.558000	0.28319	0.410000	0.31052	7.048000	0.76606	1.327000	0.45338	0.145000	0.16022	.		0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Intron	6	358	0	0	0	1	0	6	358				
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e72-1		baculoviral IAP repeat containing 6							165.0	165.0	165.0					2																	32832520		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832520A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14071-1A>T	2.37:g.32832520A>T			Somatic						NM_016252.3	NP_057336.3	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			72	14204	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052658	0.55218	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32686024	1.000000	0.71417	0.933000	0.37362	0.419000	0.31324	9.335000	0.96500	1.994000	0.58287	0.477000	0.44152	.		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	12	399	0	0	0	1	0	12	399				
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTGTTTTTTAGTTTTGAAAA	0.358																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.e20-1		kinesin family member 15							81.0	81.0	81.0					3																	44856401		2203	4300	6503	SO:0001630	splice_region_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44856401A>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2384-1A>T	3.37:g.44856401A>T			Somatic				KIF15_ENST00000425755.1_Splice_Site		NM_020242.2	NP_064627.1	WXS	Illumina GAIIx	Phase_I	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	20	2532	+								Q17RV9|Q69YL6|Q96JX7|Q9H280	Splice_Site	SNP	ENST00000326047.4	37		CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884123	0.72410	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4799	0.75517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF15	44831405	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.323000	0.79105	2.200000	0.70718	0.482000	0.46254	.		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		Intron	8	96	0	0	0	1	0	8	96				
ST8SIA2	8128	broad.mit.edu	37	15	93007593	93007593	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:93007593G>A	ENST00000268164.3	+	6	1343	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G348D	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	369					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTGACTGTCGGCCAGTGCGAT	0.602																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1105-1107)gGc>gAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							79.0	76.0	77.0					15																	93007593		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007593G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1106G>A	15.37:g.93007593G>A	ENSP00000268164:p.Gly369Asp		Somatic				ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G348D	p.G369D	NM_006011.3	NP_006002.1	WXS	Illumina GAIIx	Phase_I	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1343	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		369					Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.1106G>A	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505078	0.44558	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.34275	1.37;1.37;1.37	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.33624	1.015	0.80722	D	1	B;B	0.28713	0.092;0.22	B;B	0.33392	0.096;0.163	T	0.07693	-1.0759	10	0.39692	T	0.17	-14.8009	19.6223	0.95663	0.0:0.0:1.0:0.0	.	348;369	C6G488;Q92186	.;SIA8B_HUMAN	D	369;348;326	ENSP00000268164:G369D;ENSP00000437382:G348D;ENSP00000450851:G326D	ENSP00000268164:G369D	G	+	2	0	ST8SIA2	90808597	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.907000	0.69908	2.635000	0.89317	0.650000	0.86243	GGC		0.602	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		5	530	0	0	0	1	0	5	530				
TMIGD2	126259	broad.mit.edu	37	19	4298004	4298004	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:4298004T>C	ENST00000301272.2	-	2	430	c.385A>G	c.(385-387)Aca>Gca	p.T129A	TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T129A|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	129	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGCCTTGTTATGTTGCCC	0.587																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(385-387)Aca>Gca		transmembrane and immunoglobulin domain containing 2							103.0	118.0	113.0					19																	4298004		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4298004T>C	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.385A>G	19.37:g.4298004T>C	ENSP00000301272:p.Thr129Ala		Somatic				TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T129A	p.T129A	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	WXS	Illumina GAIIx	Phase_I	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	2	430	-			129			Ig-like.		Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.385A>G	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325069	0.41197	.	.	ENSG00000167664	ENST00000301272	T	0.37235	1.21	4.09	0.627	0.17675	Immunoglobulin subtype (1);Immunoglobulin-like (1);	.	.	.	.	T	0.19208	0.0461	L	0.29908	0.895	0.09310	N	1	P;P	0.38551	0.582;0.636	B;B	0.32724	0.093;0.151	T	0.18178	-1.0345	9	0.62326	D	0.03	.	1.0833	0.01647	0.1874:0.1084:0.1942:0.51	.	129;129	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	A	129	ENSP00000301272:T129A	ENSP00000301272:T129A	T	-	1	0	TMIGD2	4249004	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	0.936000	0.28938	-0.137000	0.11455	0.397000	0.26171	ACA		0.587	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		19	78	0	0	0	1	0	19	78				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	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																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C			Somatic				TUBB8P7_ENST00000564451.1_RNA				WXS	Illumina GAIIx	Phase_I					0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	231	0	0	0	1	0	7	231				
WDFY1	57590	broad.mit.edu	37	2	224744951	224744951	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:224744951T>A	ENST00000233055.4	-	11	1167		c.e11-2		WDFY1_ENST00000462702.1_5'Flank	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1							cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GAAGTCCGACTAACAAGAGAA	0.443																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.e11-2		WD repeat and FYVE domain containing 1							99.0	94.0	96.0					2																	224744951		2203	4300	6503	SO:0001630	splice_region_variant	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224744951T>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.1065-2A>T	2.37:g.224744951T>A			Somatic						NM_020830.3	NP_065881.1	WXS	Illumina GAIIx	Phase_I	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	11	1167	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)						Q53S17|Q9H9D5|Q9P2B3	Splice_Site	SNP	ENST00000233055.4	37		CCDS33387.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362791	0.82353	.	.	ENSG00000085449	ENST00000233055	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY1	224453195	1.000000	0.71417	0.994000	0.49952	0.879000	0.50718	7.426000	0.80270	2.160000	0.67779	0.528000	0.53228	.		0.443	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830	Intron	6	334	0	0	0	1	0	6	334				
TMC6	11322	broad.mit.edu	37	17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T	rs199724291		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:76116777C>T	ENST00000590602.1	-	13	1831	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	558					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16250	0.0		0.001	False		,,,				2504	0.0					ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1672-1674)Gtc>Atc		transmembrane channel-like 6		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167.0	159.0	162.0		1672,1672	-9.1	0.0	17		162	0,8600		0,0,4300	yes	missense,missense	TMC6	NM_007267.6,NM_001127198.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	558/806,558/806	76116777	1,13005	2203	4300	6503	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76116777C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1672G>A	17.37:g.76116777C>T	ENSP00000465261:p.Val558Ile		Somatic				TMC6_ENST00000591436.1_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Intron	p.V558I			WXS	Illumina GAIIx	Phase_I	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		13	1831	-			558					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1672G>A	CCDS32748.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.008	-1.888457	0.00527	2.27E-4	0.0	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000392466	T;T	0.62639	0.01;0.01	4.55	-9.11	0.00711	.	0.503810	0.20929	N	0.083140	T	0.18425	0.0442	N	0.02391	-0.57	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.60954	-0.7160	10	0.02654	T	1	-8.9684	1.8191	0.03106	0.169:0.1482:0.3384:0.3443	.	558;558	B3KTU5;Q7Z403	.;TMC6_HUMAN	I	558;558;20	ENSP00000313408:V558I;ENSP00000376260:V558I	ENSP00000313408:V558I	V	-	1	0	TMC6	73628372	0.011000	0.17503	0.002000	0.10522	0.004000	0.04260	-1.158000	0.03153	-4.063000	0.00077	-1.474000	0.01003	GTC		0.637	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			17	62	0	0	0	1	0	17	62				
GPR35	2859	broad.mit.edu	37	2	241570154	241570154	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:241570154G>A	ENST00000319838.5	+	6	1727	c.785G>A	c.(784-786)aGc>aAc	p.S262N	GPR35_ENST00000403859.1_Missense_Mutation_p.S262N|GPR35_ENST00000407714.1_Missense_Mutation_p.S262N|GPR35_ENST00000430267.1_Missense_Mutation_p.S262N|GPR35_ENST00000438013.2_Missense_Mutation_p.S293N	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	262					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TACATAACCAGCAAGCTCTCA	0.632																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(784-786)aGc>aAc		G protein-coupled receptor 35							164.0	142.0	150.0					2																	241570154		2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241570154G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.785G>A	2.37:g.241570154G>A	ENSP00000322731:p.Ser262Asn		Somatic				GPR35_ENST00000438013.2_Missense_Mutation_p.S293N|GPR35_ENST00000407714.1_Missense_Mutation_p.S262N|GPR35_ENST00000430267.1_Missense_Mutation_p.S262N|GPR35_ENST00000403859.1_Missense_Mutation_p.S262N	p.S262N	NM_001195381.1	NP_001182310.1	WXS	Illumina GAIIx	Phase_I	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1727	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	262					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.785G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724583	0.48833	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	3.34	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.542791	0.19125	N	0.122065	T	0.44829	0.1312	L	0.61218	1.895	0.09310	N	1	D;D;P	0.62365	0.984;0.991;0.947	P;P;P	0.60236	0.871;0.868;0.789	T	0.25257	-1.0137	10	0.27785	T	0.31	-7.03	6.4029	0.21648	0.1216:0.5259:0.3524:0.0	.	347;293;262	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	N	262;262;293;262;262	ENSP00000322731:S262N;ENSP00000385140:S262N;ENSP00000415890:S293N;ENSP00000384263:S262N;ENSP00000411788:S262N	ENSP00000322731:S262N	S	+	2	0	GPR35	241218827	0.000000	0.05858	0.001000	0.08648	0.275000	0.26752	-0.430000	0.06973	0.225000	0.20959	0.305000	0.20034	AGC		0.632	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		4	115	0	0	0	1	0	4	115				
ZHX1	11244	broad.mit.edu	37	8	124267218	124267218	+	Nonsense_Mutation	SNP	A	A	T	rs184862716		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:124267218A>T	ENST00000522655.1	-	3	1509	c.969T>A	c.(967-969)taT>taA	p.Y323*	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Nonsense_Mutation_p.Y323*|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.Y323*|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	323	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTCCTCTGTATATTTTGCTT	0.398																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(967-969)taT>taA		zinc fingers and homeoboxes 1							204.0	204.0	204.0					8																	124267218		2203	4300	6503	SO:0001587	stop_gained	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267218A>T	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.969T>A	8.37:g.124267218A>T	ENSP00000428821:p.Tyr323*		Somatic				ZHX1_ENST00000522655.1_Nonsense_Mutation_p.Y323*|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.Y323*|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.Y323*	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	WXS	Illumina GAIIx	Phase_I	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1586	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		323			Required for dimerization.|Required for interaction with NFYA.		Q8IWD8	Nonsense_Mutation	SNP	ENST00000522655.1	37	c.969T>A	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	41|41	8.859792|8.859792	0.98980|0.98980	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000520474|ENST00000297857;ENST00000395571;ENST00000522655	.|.	.|.	.|.	5.8|5.8	-3.73|-3.73	0.04398|0.04398	.|.	.|0.063695	.|0.64402	.|D	.|0.000005	T|.	0.31949|.	0.0813|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41395|.	-0.9511|.	3|.	.|0.02654	.|T	.|1	-12.0607|-12.0607	16.7768|16.7768	0.85552|0.85552	0.3135:0.0:0.6865:0.0|0.3135:0.0:0.6865:0.0	.|.	.|.	.|.	.|.	K|X	8|323	.|.	.|ENSP00000297857:Y323X	I|Y	-|-	2|3	0|2	ZHX1|ZHX1	124336399|124336399	0.347000|0.347000	0.24853|0.24853	0.972000|0.972000	0.41901|0.41901	0.992000|0.992000	0.81027|0.81027	-0.287000|-0.287000	0.08388|0.08388	-0.679000|-0.679000	0.05217|0.05217	-0.388000|-0.388000	0.06559|0.06559	ATA|TAT		0.398	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			6	430	0	0	0	1	0	6	430				
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:100681981C>G	ENST00000306151.4	+	3	7348	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTCACCACTTCTA	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7282-7284)gtC>gtG		mucin 17, cell surface associated							362.0	354.0	357.0					7																	100681981		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681981C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7284C>G	7.37:g.100681981C>G			Somatic					p.V2428V	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	7348	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2428			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7284C>G	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	822	0	0	0	1	0	6	822				
CLCN5	1184	broad.mit.edu	37	X	49840543	49840543	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:49840543A>G	ENST00000307367.2	+	4	590	c.299A>G	c.(298-300)cAt>cGt	p.H100R	CLCN5_ENST00000376091.3_Missense_Mutation_p.H170R|CLCN5_ENST00000376088.3_Missense_Mutation_p.H170R|CLCN5_ENST00000376108.3_Missense_Mutation_p.H100R			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	100					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AACCATGAACATTGTTGCTGG	0.428																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(508-510)cAt>cGt		chloride channel, voltage-sensitive 5							164.0	138.0	147.0					X																	49840543		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49840543A>G	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.299A>G	X.37:g.49840543A>G	ENSP00000304257:p.His100Arg		Somatic				CLCN5_ENST00000307367.2_Missense_Mutation_p.H100R|CLCN5_ENST00000376108.3_Missense_Mutation_p.H100R|CLCN5_ENST00000376091.3_Missense_Mutation_p.H170R	p.H170R	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	WXS	Illumina GAIIx	Phase_I	P51795	CLCN5_HUMAN			7	1150	+	Ovarian(276;0.236)		100					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.509A>G	CCDS14328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.78|15.78	2.933495|2.933495	0.52866|0.52866	.|.	.|.	ENSG00000171365|ENSG00000171365	ENST00000376088;ENST00000376091;ENST00000376108;ENST00000307367|ENST00000450422	D;D;D;D|.	0.88975|.	-2.45;-2.45;-2.44;-2.44|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Chloride channel, core (1);|.	0.047968|.	0.85682|.	D|.	0.000000|.	T|T	0.61874|0.61874	0.2382|0.2382	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	B;B|.	0.25667|.	0.004;0.131|.	B;B|.	0.22601|.	0.007;0.04|.	T|T	0.65676|0.65676	-0.6110|-0.6110	10|6	0.23302|0.87932	T|D	0.38|0	-6.0866|-6.0866	13.0076|13.0076	0.58715|0.58715	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	100;170|.	P51795;P51795-2|.	CLCN5_HUMAN;.|.	R|V	170;170;100;100|3	ENSP00000365256:H170R;ENSP00000365259:H170R;ENSP00000365276:H100R;ENSP00000304257:H100R|.	ENSP00000304257:H100R|ENSP00000400415:I3V	H|I	+|+	2|1	0|0	CLCN5|CLCN5	49727283|49727283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.185000|9.185000	0.94900|0.94900	1.780000|1.780000	0.52325|0.52325	0.430000|0.430000	0.28490|0.28490	CAT|ATT		0.428	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			8	357	0	0	0	1	0	8	357				
CDC6	990	broad.mit.edu	37	17	38450200	38450200	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:38450200A>T	ENST00000209728.4	+	6	1307		c.e6-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTCTTTTTATAGTGTGTTGGT	0.408																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.e6-1		cell division cycle 6							248.0	214.0	225.0					17																	38450200		2203	4300	6503	SO:0001630	splice_region_variant	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38450200A>T	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.837-1A>T	17.37:g.38450200A>T			Somatic						NM_001254.3	NP_001245.1	WXS	Illumina GAIIx	Phase_I	Q99741	CDC6_HUMAN			6	1307	+								Q8TB30	Splice_Site	SNP	ENST00000209728.4	37		CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.523973	0.85600	.	.	ENSG00000094804	ENST00000209728	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4063	0.74881	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC6	35703726	1.000000	0.71417	0.906000	0.35671	0.969000	0.65631	7.653000	0.83643	2.279000	0.76181	0.533000	0.62120	.		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1		Intron	10	360	0	0	0	1	0	10	360				
C11orf49	79096	broad.mit.edu	37	11	47008758	47008758	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:47008758G>A	ENST00000278460.7	+	2	105		c.e2-1		C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000395460.2_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49							nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TTTGATTGCAGCTCAGCGACA	0.428																																						ENST00000395460.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.e2-1		chromosome 11 open reading frame 49							114.0	115.0	114.0					11																	47008758		2201	4299	6500	SO:0001630	splice_region_variant	79096							g.chr11:47008758G>A	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.47-1G>A	11.37:g.47008758G>A			Somatic				C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000278460.7_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site		NM_001003676.1	NP_001003676.1	WXS	Illumina GAIIx	Phase_I	Q9H6J7	CK049_HUMAN			2	84	+								D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Splice_Site	SNP	ENST00000278460.7	37		CCDS7925.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488303	0.64074	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1112	0.89537	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf49	46965334	1.000000	0.71417	0.998000	0.56505	0.617000	0.37484	6.747000	0.74872	2.732000	0.93576	0.591000	0.81541	.		0.428	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113	Intron	5	298	0	0	0	1	0	5	298				
NAV3	89795	broad.mit.edu	37	12	78362323	78362323	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:78362323C>G	ENST00000397909.2	+	5	685	c.512C>G	c.(511-513)gCc>gGc	p.A171G	NAV3_ENST00000228327.6_Missense_Mutation_p.A171G|NAV3_ENST00000266692.7_Missense_Mutation_p.A171G|NAV3_ENST00000536525.2_Missense_Mutation_p.A171G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	171	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACTTAAAAGCCATTCTAGGG	0.333										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(511-513)gCc>gGc		neuron navigator 3							67.0	70.0	69.0					12																	78362323		1877	4099	5976	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362323C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.512C>G	12.37:g.78362323C>G	ENSP00000381007:p.Ala171Gly	HNSCC(70;0.22)	Somatic				NAV3_ENST00000536525.2_Missense_Mutation_p.A171G|NAV3_ENST00000228327.6_Missense_Mutation_p.A171G|NAV3_ENST00000266692.7_Missense_Mutation_p.A171G	p.A171G			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			5	685	+			171			CH.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.512C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.203831|3.203831	0.58234|0.58234	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	D;D;D;D;D|.	0.95035|.	-3.59;-3.59;-3.59;-3.59;-3.59|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Calponin homology domain (5);|.	0.000000|.	0.37906|.	U|.	0.001896|.	T|T	0.73289|0.73289	0.3568|0.3568	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;B|.	0.31174|.	0.004;0.311|.	B;B|.	0.40228|.	0.062;0.323|.	T|T	0.69091|0.69091	-0.5237|-0.5237	10|5	0.87932|.	D|.	0|.	-15.5348|-15.5348	19.9618|19.9618	0.97254|0.97254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	171;171|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	G|R	171|17	ENSP00000446628:A171G;ENSP00000446132:A171G;ENSP00000381007:A171G;ENSP00000228327:A171G;ENSP00000266692:A171G|.	ENSP00000228327:A171G|.	A|S	+|+	2|3	0|2	NAV3|NAV3	76886454|76886454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.594000|3.594000	0.54008|0.54008	2.719000|2.719000	0.93026|0.93026	0.632000|0.632000	0.83419|0.83419	GCC|AGC		0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	17	0	0	0	1	0	11	17				
SAP130	79595	broad.mit.edu	37	2	128757929	128757929	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:128757929A>G	ENST00000259235.3	-	8	1176	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	SAP130_ENST00000259234.6_Silent_p.S323S|SAP130_ENST00000357702.5_Silent_p.S349S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	349					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATGCAGGGTGAGATGGTAGTG	0.473																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1045-1047)tcT>tcC		Sin3A-associated protein, 130kDa							330.0	290.0	303.0					2																	128757929		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128757929A>G	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1047T>C	2.37:g.128757929A>G			Somatic				SAP130_ENST00000259234.6_Silent_p.S323S|SAP130_ENST00000259235.3_Silent_p.S349S	p.S349S	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	8	1178	-	Colorectal(110;0.1)		349					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.1047T>C	CCDS2153.1																																																																																				0.473	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		180	635	0	0	0	1	0	180	635				
OR6N2	81442	broad.mit.edu	37	1	158747330	158747330	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:158747330T>A	ENST00000339258.1	-	1	95	c.96A>T	c.(94-96)ctA>ctT	p.L32L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTATGCCAATAGCAGCAGGA	0.493																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(94-96)ctA>ctT		olfactory receptor, family 6, subfamily N, member 2							107.0	104.0	105.0					1																	158747330		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747330T>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.96A>T	1.37:g.158747330T>A			Somatic					p.L32L	NM_001005278.1	NP_001005278.1	WXS	Illumina GAIIx	Phase_I	Q8NGY6	OR6N2_HUMAN			1	95	-	all_hematologic(112;0.0378)		32					Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.96A>T	CCDS30906.1																																																																																				0.493	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			8	933	0	0	0	1	0	8	933				
VPS41	27072	broad.mit.edu	37	7	38807138	38807138	+	Splice_Site	SNP	G	G	A	rs139485137	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:38807138G>A	ENST00000310301.4	-	15	1300	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	VPS41_ENST00000395969.2_Splice_Site_p.R391C	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	416					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATCATTACCGTGCTGCTATG	0.318													G|||	6	0.00119808	0.0	0.0	5008	,	,		13683	0.0		0.006	False		,,,				2504	0.0					ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.e15+1		vacuolar protein sorting 41 homolog (S. cerevisiae)		G	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	88.0	83.0	85.0		1246,1171	4.8	1.0	7	dbSNP_134	85	35,8565	23.4+/-69.3	0,35,4265	yes	missense-near-splice,missense-near-splice	VPS41	NM_014396.3,NM_080631.3	180,180	0,39,6464	AA,AG,GG		0.407,0.0908,0.2999	probably-damaging,probably-damaging	416/855,391/830	38807138	39,12967	2203	4300	6503	SO:0001630	splice_region_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38807138G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1247+1C>T	7.37:g.38807138G>A			Somatic				VPS41_ENST00000395969.2_Splice_Site_p.R391_splice	p.R416_splice	NM_014396.3	NP_055211.2	WXS	Illumina GAIIx	Phase_I	P49754	VPS41_HUMAN			15	1300	-			416					E9PF36|Q86TP8|Q99851|Q99852	Splice_Site	SNP	ENST00000310301.4	37	c.1247_splice	CCDS5457.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	17.08	3.297691	0.60086	9.08E-4	0.00407	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.18960	2.18;2.18	5.64	4.75	0.60458	.	0.046740	0.85682	D	0.000000	T	0.30665	0.0772	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.59221	0.854;0.854;0.854	T	0.12708	-1.0537	10	0.59425	D	0.04	-13.3768	13.971	0.64240	0.0:0.0:0.6125:0.3875	.	416;391;416	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	C	416;391	ENSP00000309457:R416C;ENSP00000379297:R391C	ENSP00000309457:R416C	R	-	1	0	VPS41	38773663	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.242000	0.43106	1.359000	0.45940	0.655000	0.94253	CGC		0.318	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Missense_Mutation	24	125	0	0	0	1	0	24	125				
ANKMY1	51281	broad.mit.edu	37	2	241465702	241465702	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:241465702A>G	ENST00000272972.3	-	5	1061	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.F283L|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.F372L|ANKMY1_ENST00000405523.3_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	283							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCACTAGCAAAGTTGTCCTTC	0.562																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(847-849)Ttt>Ctt		ankyrin repeat and MYND domain containing 1							167.0	147.0	154.0					2																	241465702		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241465702A>G	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.847T>C	2.37:g.241465702A>G	ENSP00000272972:p.Phe283Leu		Somatic				ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.F372L|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.F283L	p.F283L			WXS	Illumina GAIIx	Phase_I	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	6	1213	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	283					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.847T>C	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	A	1.353	-0.590995	0.03799	.	.	ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804	T;T;T	0.33216	1.42;1.42;1.42	4.11	-0.32	0.12721	Ankyrin repeat-containing domain (4);	0.501265	0.17058	N	0.188657	T	0.07503	0.0189	N	0.01109	-1.01	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30327	-0.9982	10	0.21014	T	0.42	-8.5545	3.3393	0.07113	0.4881:0.0:0.3242:0.1877	.	283;283	Q4ZFV3;Q9P2S6	.;ANKY1_HUMAN	L	283;283;372	ENSP00000272972:F283L;ENSP00000375847:F283L;ENSP00000385887:F372L	ENSP00000272972:F283L	F	-	1	0	ANKMY1	241114375	0.034000	0.19679	0.001000	0.08648	0.034000	0.12701	0.810000	0.27183	-0.038000	0.13624	0.482000	0.46254	TTT		0.562	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		31	57	0	0	0	1	0	31	57				
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396936.1_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGCTTCTCTTAGTTCATATCT	0.463																																						ENST00000446197.3																			0											c.e8-1		DDB1 and CUL4 associated factor 11							173.0	146.0	155.0					14																	24587957		2203	4300	6503	SO:0001630	splice_region_variant	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24587957A>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.725-1A>T	14.37:g.24587957A>T			Somatic				DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000396936.1_Splice_Site		NM_025230.4	NP_079506.3	WXS	Illumina GAIIx	Phase_I	Q8TEB1	DCA11_HUMAN			8	1451	+								B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Splice_Site	SNP	ENST00000446197.3	37		CCDS9610.1	.	.	.	.	.	.	.	.	.	.	a	16.59	3.165130	0.57476	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7873	0.57514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF11	23657797	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.189000	0.77747	2.125000	0.65367	0.533000	0.62120	.		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Intron	6	316	0	0	0	1	0	6	316				
BCORL1	63035	broad.mit.edu	37	X	129147038	129147038	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:129147038C>G	ENST00000218147.7	+	4	487	c.290C>G	c.(289-291)cCa>cGa	p.P97R	BCORL1_ENST00000303743.5_Missense_Mutation_p.P97R|BCORL1_ENST00000359304.2_Missense_Mutation_p.P97R|BCORL1_ENST00000540052.1_Missense_Mutation_p.P97R			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	97					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GATCCCCAGCCAAAAATGGAC	0.602																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(289-291)cCa>cGa		BCL6 corepressor-like 1							46.0	43.0	44.0					X																	129147038		2201	4298	6499	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147038C>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.290C>G	X.37:g.129147038C>G	ENSP00000218147:p.Pro97Arg		Somatic				BCORL1_ENST00000303743.5_Missense_Mutation_p.P97R|BCORL1_ENST00000218147.7_Missense_Mutation_p.P97R|BCORL1_ENST00000359304.2_Missense_Mutation_p.P97R|BCORL1_ENST00000488135.1_3'UTR	p.P97R	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	334	+			97					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.290C>G	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.754120	0.31046	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.44083	0.94;1.3;0.93;0.94	5.28	4.36	0.52297	.	0.000000	0.35013	N	0.003504	T	0.24392	0.0591	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09796	-1.0658	10	0.40728	T	0.16	-1.1436	8.9885	0.36008	0.1641:0.6798:0.1561:0.0	.	97	Q5H9F3	BCORL_HUMAN	R	97	ENSP00000218147:P97R;ENSP00000307541:P97R;ENSP00000352253:P97R;ENSP00000437775:P97R	ENSP00000218147:P97R	P	+	2	0	BCORL1	128974719	0.894000	0.30519	0.678000	0.29963	0.923000	0.55619	1.612000	0.36889	2.203000	0.70933	0.529000	0.55759	CCA		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	94	0	0	0	1	0	3	94				
PTPN22	26191	broad.mit.edu	37	1	114394727	114394727	+	Splice_Site	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:114394727C>A	ENST00000359785.5	-	10	886		c.e10-1		PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Splice_Site|PTPN22_ENST00000538253.1_Splice_Site	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGAATTATCTATCAAATTA	0.348																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.e10-1		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							48.0	46.0	47.0					1																	114394727		2202	4300	6502	SO:0001630	splice_region_variant	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114394727C>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.751-1G>T	1.37:g.114394727C>A			Somatic				PTPN22_ENST00000538253.1_Splice_Site|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Splice_Site		NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	WXS	Illumina GAIIx	Phase_I	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	886	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)						A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Splice_Site	SNP	ENST00000359785.5	37		CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782141	0.70222	.	.	ENSG00000134242	ENST00000359785;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6773	0.91532	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN22	114196250	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.106000	0.77039	2.716000	0.92895	0.561000	0.74099	.		0.348	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	Intron	3	17	1	0	1	1	1	3	17				
ZC2HC1C	79696	broad.mit.edu	37	14	75537847	75537847	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:75537847A>T	ENST00000524913.1	+	2	1060	c.571A>T	c.(571-573)Act>Tct	p.T191S	ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.T191S|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.T191S|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	191							metal ion binding (GO:0046872)										TGTGGTTGGTACTGTTCTTGC	0.542																																						ENST00000524913.1																			0											c.(571-573)Act>Tct		zinc finger, C2HC-type containing 1C							137.0	141.0	139.0					14																	75537847		1970	4140	6110	SO:0001583	missense	79696							g.chr14:75537847A>T	AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.571A>T	14.37:g.75537847A>T	ENSP00000435550:p.Thr191Ser		Somatic				ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.T191S|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.T191S	p.T191S	NM_024643.2	NP_078919.2	WXS	Illumina GAIIx	Phase_I	Q53FD0	F164C_HUMAN			2	1060	+			191					E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	37	c.571A>T	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.798549	0.00617	.	.	ENSG00000119703	ENST00000524913;ENST00000238686;ENST00000439583	T	0.41758	0.99	3.51	-7.02	0.01589	.	2.009850	0.02755	N	0.117874	T	0.19446	0.0467	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.25433	-1.0132	10	0.09084	T	0.74	6.231	2.7078	0.05166	0.2833:0.4053:0.205:0.1063	.	191;191	Q53FD0;E9PJQ0	F164C_HUMAN;.	S	191	ENSP00000435550:T191S	ENSP00000238686:T191S	T	+	1	0	FAM164C	74607600	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.035000	0.01423	-3.044000	0.00262	-3.520000	0.00032	ACT		0.542	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		7	752	0	0	0	1	0	7	752				
POU6F2	11281	broad.mit.edu	37	7	39247033	39247033	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:39247033G>A	ENST00000403058.1	+	5	479	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	POU6F2_ENST00000559001.1_Missense_Mutation_p.V101M|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.V109M	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	109					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGGCCGGCGTGATGCCGGG	0.577																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(325-327)Gtg>Atg		POU class 6 homeobox 2							92.0	96.0	95.0					7																	39247033		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39247033G>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.325G>A	7.37:g.39247033G>A	ENSP00000384004:p.Val109Met		Somatic				POU6F2_ENST00000559001.1_Missense_Mutation_p.V101M|POU6F2_ENST00000403058.1_Missense_Mutation_p.V109M|POU6F2_ENST00000517348.1_3'UTR	p.V109M			WXS	Illumina GAIIx	Phase_I	P78424	PO6F2_HUMAN			4	367	+			109					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.325G>A	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	34	5.357998	0.95854	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.87334	-2.24;-2.21	6.17	6.17	0.99709	.	4.356920	0.00424	N	0.000079	D	0.93592	0.7954	L	0.44542	1.39	0.50313	D	0.999863	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.80944	-0.1156	10	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	109;109	P78424-2;P78424	.;PO6F2_HUMAN	M	109;109;110	ENSP00000384004:V109M;ENSP00000430514:V109M	ENSP00000384004:V109M	V	+	1	0	POU6F2	39213558	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GTG		0.577	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		19	321	0	0	0	1	0	19	321				
SAP130	79595	broad.mit.edu	37	2	128757928	128757928	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:128757928G>A	ENST00000259235.3	-	8	1177	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	SAP130_ENST00000259234.6_Missense_Mutation_p.H324Y|SAP130_ENST00000357702.5_Missense_Mutation_p.H350Y	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	350					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AATGCAGGGTGAGATGGTAGT	0.473																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1048-1050)Cac>Tac		Sin3A-associated protein, 130kDa							329.0	289.0	303.0					2																	128757928		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128757928G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1048C>T	2.37:g.128757928G>A	ENSP00000259235:p.His350Tyr		Somatic				SAP130_ENST00000259234.6_Missense_Mutation_p.H324Y|SAP130_ENST00000259235.3_Missense_Mutation_p.H350Y	p.H350Y	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	8	1179	-	Colorectal(110;0.1)		350					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1048C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672838	0.67928	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	L	0.29908	0.895	0.58432	D	0.999998	D;B;P	0.71674	0.998;0.161;0.617	D;B;B	0.80764	0.994;0.107;0.225	T	0.56414	-0.7983	9	0.02654	T	1	-15.5909	14.6047	0.68469	0.0699:0.0:0.9301:0.0	.	350;323;350	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	Y	350;350;324	.	ENSP00000259234:H324Y	H	-	1	0	SAP130	128474398	1.000000	0.71417	0.975000	0.42487	0.998000	0.95712	7.104000	0.77024	1.405000	0.46838	0.650000	0.86243	CAC		0.473	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		180	633	0	0	0	1	0	180	633				
HLF	3131	broad.mit.edu	37	17	53398085	53398085	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:53398085G>A	ENST00000226067.5	+	4	1206	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	HLF_ENST00000575345.1_Missense_Mutation_p.A160T|HLF_ENST00000430986.2_Missense_Mutation_p.A160T|HLF_ENST00000573945.1_Missense_Mutation_p.A160T|HLF_ENST00000575307.1_3'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	245	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						CTCCCGCGACGCCCGGAGGCT	0.557			T	TCF3	ALL																																	ENST00000226067.5				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(733-735)Gcc>Acc		hepatic leukemia factor							34.0	39.0	37.0					17																	53398085		2203	4299	6502	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53398085G>A		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.733G>A	17.37:g.53398085G>A	ENSP00000226067:p.Ala245Thr		Somatic				HLF_ENST00000575307.1_3'UTR|HLF_ENST00000430986.2_Missense_Mutation_p.A160T|HLF_ENST00000575345.1_Missense_Mutation_p.A160T|HLF_ENST00000573945.1_Missense_Mutation_p.A160T	p.A245T	NM_002126.4	NP_002117.1	WXS	Illumina GAIIx	Phase_I	Q16534	HLF_HUMAN			4	1206	+			245					A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.733G>A	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714179	0.89112	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.45276	0.9;0.9	5.64	5.64	0.86602	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79410	-0.1815	10	0.87932	D	0	.	18.6863	0.91565	0.0:0.0:1.0:0.0	.	193;245	B4DIQ5;Q16534	.;HLF_HUMAN	T	245;160	ENSP00000226067:A245T;ENSP00000402496:A160T	ENSP00000226067:A245T	A	+	1	0	HLF	50753084	1.000000	0.71417	0.988000	0.46212	0.156000	0.22039	9.469000	0.97679	2.659000	0.90383	0.563000	0.77884	GCC		0.557	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		15	67	0	0	0	1	0	15	67				
ANTXR1	84168	broad.mit.edu	37	2	69399514	69399514	+	Intron	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:69399514T>A	ENST00000303714.4	+	14	1411				ANTXR1_ENST00000409349.3_Nonstop_Mutation_p.*369K	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1						actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAAAATAAAATAACAAGAAGA	0.383									Familial Infantile Hemangioma																													ENST00000409349.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1105-1107)Taa>Aaa		anthrax toxin receptor 1							69.0	66.0	67.0					2																	69399514		1828	4091	5919	SO:0001627	intron_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69399514T>A	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1089+2093T>A	2.37:g.69399514T>A			Somatic				ANTXR1_ENST00000303714.4_Intron	p.*369K	NM_053034.2	NP_444262.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			15	1208	+			0					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Nonstop_Mutation	SNP	ENST00000303714.4	37	c.1105T>A	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.528579	0.00959	.	.	ENSG00000169604	ENST00000409349	.	.	.	0.235	-0.47	0.12131	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	K	369	.	.	X	+	1	0	ANTXR1	69253018	0.001000	0.12720	0.006000	0.13384	0.015000	0.08874	-1.052000	0.03503	-0.717000	0.04955	-0.708000	0.03648	TAA		0.383	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		4	86	0	0	0	1	0	4	86				
SUGCT	79783	broad.mit.edu	37	7	40277232	40277232	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:40277232A>T	ENST00000335693.4	+	7	528		c.e7-1		C7orf10_ENST00000309930.5_Splice_Site|C7orf10_ENST00000401647.2_Splice_Site	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN							metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGTTGTTTTAGGGTATGGTC	0.443																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.e7-1		chromosome 7 open reading frame 10							179.0	169.0	172.0					7																	40277232		1948	4142	6090	SO:0001630	splice_region_variant	79783						transferase activity	g.chr7:40277232A>T																												ENST00000335693.4:c.506-1A>T	7.37:g.40277232A>T			Somatic				C7orf10_ENST00000401647.2_Splice_Site|C7orf10_ENST00000335693.4_Splice_Site		NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			7	529	+								A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Splice_Site	SNP	ENST00000335693.4	37		CCDS55105.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155321	0.78114	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000416370	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2893	0.73854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf10	40243757	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	5.919000	0.70005	2.159000	0.67721	0.533000	0.62120	.		0.443	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		Intron	7	267	0	0	0	1	0	7	267				
ASXL1	171023	broad.mit.edu	37	20	31019246	31019246	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:31019246C>G	ENST00000375687.4	+	9	1265	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	ASXL1_ENST00000306058.5_Missense_Mutation_p.Q276E	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	281	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATCACACTTCCAGCAGCAGCT	0.527			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(841-843)Cag>Gag		additional sex combs like 1 (Drosophila)							153.0	151.0	152.0					20																	31019246		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31019246C>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.841C>G	20.37:g.31019246C>G	ENSP00000364839:p.Gln281Glu		Somatic				ASXL1_ENST00000306058.5_Missense_Mutation_p.Q276E	p.Q281E	NM_015338.5	NP_056153.2	WXS	Illumina GAIIx	Phase_I	Q8IXJ9	ASXL1_HUMAN			9	1265	+			281					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.841C>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673287	0.88445	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	T;T	0.30182	1.56;1.54	5.27	5.27	0.74061	.	0.056794	0.64402	D	0.000001	T	0.59636	0.2208	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.83275	0.994;0.996	T	0.63056	-0.6722	10	0.87932	D	0	-11.3327	19.0985	0.93265	0.0:1.0:0.0:0.0	.	276;281	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	E	281;281;281;220;276;53	ENSP00000364839:Q281E;ENSP00000305119:Q276E	ENSP00000305119:Q276E	Q	+	1	0	ASXL1	30482907	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.289000	0.78701	2.751000	0.94390	0.650000	0.86243	CAG		0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		17	205	0	0	0	1	0	17	205				
SLC19A2	10560	broad.mit.edu	37	1	169438076	169438076	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:169438076T>A	ENST00000236137.5	-	4	1267		c.e4-2		SLC19A2_ENST00000367804.4_Splice_Site	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2						folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CAACAGCACCTACAGAACAAA	0.328																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.e4-2		solute carrier family 19 (thiamine transporter), member 2							70.0	69.0	69.0					1																	169438076		2203	4300	6503	SO:0001630	splice_region_variant	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169438076T>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1031-2A>T	1.37:g.169438076T>A			Somatic				SLC19A2_ENST00000367802.3_Splice_Site|SLC19A2_ENST00000367804.3_Splice_Site		NM_006996.2	NP_008927.1	WXS	Illumina GAIIx	Phase_I	O60779	S19A2_HUMAN			4	1267	-	all_hematologic(923;0.208)							B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Splice_Site	SNP	ENST00000236137.5	37		CCDS1280.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.655597	0.67586	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9708	0.80019	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC19A2	167704700	1.000000	0.71417	0.953000	0.39169	0.717000	0.41224	7.665000	0.83852	2.167000	0.68274	0.528000	0.53228	.		0.328	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996	Intron	5	132	0	0	0	1	0	5	132				
ASNSD1	54529	broad.mit.edu	37	2	190531590	190531590	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:190531590A>T	ENST00000260952.4	+	4	1145	c.732A>T	c.(730-732)ttA>ttT	p.L244F	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	244					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTGTTCCTTTAAATATGATGT	0.378																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(730-732)ttA>ttT		asparagine synthetase domain containing 1							80.0	85.0	83.0					2																	190531590		2201	4298	6499	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531590A>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.732A>T	2.37:g.190531590A>T	ENSP00000260952:p.Leu244Phe		Somatic				ASNSD1_ENST00000607062.1_Intron	p.L244F	NM_019048.2	NP_061921.1	WXS	Illumina GAIIx	Phase_I	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1145	+			244					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.732A>T	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046263	0.36085	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.37235	1.22;1.21	6.17	3.81	0.43845	.	0.063724	0.64402	D	0.000011	T	0.30103	0.0754	M	0.62723	1.935	0.48571	D	0.999674	P	0.47106	0.89	B	0.38954	0.286	T	0.06391	-1.0829	10	0.30854	T	0.27	-14.5663	6.8627	0.24076	0.7437:0.1326:0.1237:0.0	.	244	Q9NWL6	ASND1_HUMAN	F	244	ENSP00000260952:L244F;ENSP00000406790:L244F	ENSP00000260952:L244F	L	+	3	2	ASNSD1	190239835	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.283000	0.33237	1.124000	0.41980	0.533000	0.62120	TTA		0.378	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		5	248	0	0	0	1	0	5	248				
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)	kidney(37)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826	c.(193-195)tCg>tAg		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							7.0	11.0	9.0					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183725C>A	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		Somatic				VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*	p.S65*	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	1034	+			65		S -> A (in pheochromocytoma).|S -> L (in VHLD; type I).|S -> W (in VHLD; type I).			B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	c.194C>A	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		3	3	1	0	0.115264	1	0.117143	3	3				
RTTN	25914	broad.mit.edu	37	18	67809625	67809625	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:67809625T>A	ENST00000255674.6	-	19	2768		c.e19-2		RTTN_ENST00000437017.1_Splice_Site|RTTN_ENST00000454359.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin						determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGTCTCCAACTACAAACCAAA	0.328																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.e19-2		rotatin							54.0	47.0	49.0					18																	67809625		1822	4076	5898	SO:0001630	splice_region_variant	25914						binding	g.chr18:67809625T>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2482-2A>T	18.37:g.67809625T>A			Somatic				RTTN_ENST00000437017.1_Splice_Site|RTTN_ENST00000454359.1_Splice_Site		NM_173630.3	NP_775901.3	WXS	Illumina GAIIx	Phase_I	Q86VV8	RTTN_HUMAN			19	2768	-		Esophageal squamous(42;0.129)						Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Splice_Site	SNP	ENST00000255674.6	37		CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049353	0.55218	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5366	0.61650	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTTN	65960605	1.000000	0.71417	0.849000	0.33467	0.615000	0.37417	6.415000	0.73328	1.899000	0.54978	0.402000	0.26972	.		0.328	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	Intron	5	82	0	0	0	1	0	5	82				
SNX11	29916	broad.mit.edu	37	17	46198653	46198653	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:46198653A>C	ENST00000393405.2	+	8	950	c.596A>C	c.(595-597)gAa>gCa	p.E199A	SNX11_ENST00000359238.2_Missense_Mutation_p.E199A|SNX11_ENST00000582104.1_Missense_Mutation_p.E191A|SNX11_ENST00000580219.1_Missense_Mutation_p.E191A|SNX11_ENST00000452859.2_Missense_Mutation_p.E55A|SNX11_ENST00000439357.2_Missense_Mutation_p.E138A	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	199					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CCTCCCAGTGAAGAAAAGGAC	0.507																																						ENST00000393405.2																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						c.(595-597)gAa>gCa		sorting nexin 11							138.0	134.0	136.0					17																	46198653		2203	4300	6503	SO:0001583	missense	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46198653A>C	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.596A>C	17.37:g.46198653A>C	ENSP00000377059:p.Glu199Ala		Somatic				SNX11_ENST00000439357.2_Missense_Mutation_p.E138A|SNX11_ENST00000452859.2_Missense_Mutation_p.E55A|SNX11_ENST00000359238.2_Missense_Mutation_p.E199A|SNX11_ENST00000582104.1_Missense_Mutation_p.E191A|SNX11_ENST00000580219.1_Missense_Mutation_p.E191A	p.E199A	NM_152244.1	NP_689450.1	WXS	Illumina GAIIx	Phase_I	Q9Y5W9	SNX11_HUMAN			8	950	+			199					B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	ENST00000393405.2	37	c.596A>C	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.558725	0.45590	.	.	ENSG00000002919	ENST00000452859;ENST00000393405;ENST00000439357;ENST00000359238	T;T	0.66638	-0.22;-0.22	6.16	5.07	0.68467	.	0.124188	0.52532	D	0.000063	T	0.59676	0.2211	L	0.50333	1.59	0.41362	D	0.987434	B;B;B	0.17667	0.023;0.023;0.013	B;B;B	0.12156	0.007;0.007;0.005	T	0.56601	-0.7952	10	0.49607	T	0.09	-11.6932	10.4097	0.44285	0.8359:0.1641:0.0:0.0	.	138;191;199	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	A	55;199;138;199	ENSP00000377059:E199A;ENSP00000352175:E199A	ENSP00000352175:E199A	E	+	2	0	SNX11	43553652	1.000000	0.71417	0.997000	0.53966	0.630000	0.37929	2.756000	0.47549	1.117000	0.41842	0.528000	0.53228	GAA		0.507	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1			28	271	0	0	0	1	0	28	271				
PHKB	5257	broad.mit.edu	37	16	47497874	47497874	+	Intron	SNP	G	G	T	rs145777693	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:47497874G>T	ENST00000323584.5	+	1	100				PHKB_ENST00000566044.1_Missense_Mutation_p.V9F|ITFG1_ENST00000320640.6_5'Flank|PHKB_ENST00000455779.1_Missense_Mutation_p.V9F|PHKB_ENST00000567402.1_Intron|PHKB_ENST00000299167.8_Intron|ITFG1_ENST00000544001.2_5'Flank	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGATGCAGTCGTCTCTCCGTC	0.403																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(25-27)Gtc>Ttc		phosphorylase kinase, beta							147.0	141.0	143.0					16																	47497874		1863	4099	5962	SO:0001627	intron_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47497874G>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.76+2537G>T	16.37:g.47497874G>T			Somatic				PHKB_ENST00000567402.1_Intron|PHKB_ENST00000566044.1_Missense_Mutation_p.V9F|PHKB_ENST00000323584.5_Intron|PHKB_ENST00000299167.8_Intron	p.V9F			WXS	Illumina GAIIx	Phase_I	Q93100	KPBB_HUMAN			2	210	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	0			Calmodulin-binding (Potential).		Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.25G>T	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118829	0.20877	.	.	ENSG00000102893	ENST00000299167;ENST00000455779	D	0.90955	-2.76	5.65	0.817	0.18773	.	.	.	.	.	T	0.78622	0.4312	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.65734	-0.6096	9	0.37606	T	0.19	.	8.3052	0.32038	0.26:0.0:0.6294:0.1106	.	9;9	B4DQ16;Q93100-4	.;.	F	9	ENSP00000414345:V9F	ENSP00000299167:V9F	V	+	1	0	PHKB	46055375	0.165000	0.22948	0.719000	0.30619	0.852000	0.48524	0.172000	0.16704	0.300000	0.22699	0.585000	0.79938	GTC		0.403	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			9	95	1	0	9.05144e-12	1	9.56282e-12	9	95				
NBPF1	55672	broad.mit.edu	37	1	16913735	16913735	+	Silent	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:16913735T>C	ENST00000430580.2	-	11	1475	c.588A>G	c.(586-588)gaA>gaG	p.E196E		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	196	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGACTTTGCTTTCTTCAGCCT	0.507																																						ENST00000430580.2																			0											c.(586-588)gaA>gaG		neuroblastoma breakpoint family, member 1							69.0	65.0	66.0					1																	16913735		2128	4227	6355	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16913735T>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.588A>G	1.37:g.16913735T>C			Somatic					p.E196E	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	11	1475	-			196			NBPF 1.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.588A>G																																																																																					0.507	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		5	673	0	0	0	1	0	5	673				
MUC16	94025	broad.mit.edu	37	19	9049643	9049643	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:9049643G>C	ENST00000397910.4	-	5	32191	c.31988C>G	c.(31987-31989)aCt>aGt	p.T10663S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10665	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGTACTAGTATCTGTCCC	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31987-31989)aCt>aGt		mucin 16, cell surface associated							152.0	138.0	142.0					19																	9049643		2033	4191	6224	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049643G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31988C>G	19.37:g.9049643G>C	ENSP00000381008:p.Thr10663Ser		Somatic					p.T10663S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	32191	-			10665			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31988C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.080	0.200481	0.09652	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	2.61	-2.26	0.06867	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.21821	0.061	B	0.25405	0.06	T	0.46789	-0.9166	8	0.87932	D	0	.	2.577	0.04808	0.4283:0.0:0.3505:0.2213	.	10663	B5ME49	.	S	10663	ENSP00000381008:T10663S	ENSP00000381008:T10663S	T	-	2	0	MUC16	8910643	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.546000	0.06062	-0.446000	0.07149	0.298000	0.19748	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	594	0	0	0	1	0	9	594				
NEB	4703	broad.mit.edu	37	2	152497182	152497182	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:152497182T>A	ENST00000172853.10	-	61	8521		c.e61-2		NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACTTGAACTAAAAGAAGAA	0.398																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.e61-2		nebulin							72.0	67.0	69.0					2																	152497182		1838	4081	5919	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152497182T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8374-2A>T	2.37:g.152497182T>A			Somatic				NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site		NM_001164508.1	NP_001157980.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8576	-								F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37			.	.	.	.	.	.	.	.	.	.	T	25.3	4.623791	0.87460	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152205428	1.000000	0.71417	0.984000	0.44739	0.886000	0.51366	7.991000	0.88244	2.371000	0.80710	0.533000	0.62120	.		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Intron	7	214	0	0	0	1	0	7	214				
TMEM61	199964	broad.mit.edu	37	1	55457606	55457606	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:55457606G>T	ENST00000371268.3	+	3	737	c.463G>T	c.(463-465)Gcc>Tcc	p.A155S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	155						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TACGGAGGAAGCCCTGGAGCC	0.627																																						ENST00000371268.3																			0				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(463-465)Gcc>Tcc		transmembrane protein 61							99.0	86.0	90.0					1																	55457606		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55457606G>T	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.463G>T	1.37:g.55457606G>T	ENSP00000360315:p.Ala155Ser		Somatic				RP11-12C17.2_ENST00000436960.1_RNA	p.A155S	NM_182532.1	NP_872338.1	WXS	Illumina GAIIx	Phase_I	Q8N0U2	TMM61_HUMAN			3	737	+			155						Missense_Mutation	SNP	ENST00000371268.3	37	c.463G>T	CCDS601.1	.	.	.	.	.	.	.	.	.	.	G	7.393	0.631187	0.14322	.	.	ENSG00000143001	ENST00000371268	T	0.44881	0.91	3.64	1.77	0.24775	.	1.086220	0.07182	N	0.854159	T	0.25344	0.0616	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24799	-1.0150	10	0.10902	T	0.67	-3.2661	7.453	0.27250	0.2128:0.0:0.7872:0.0	.	155	Q8N0U2	TMM61_HUMAN	S	155	ENSP00000360315:A155S	ENSP00000360315:A155S	A	+	1	0	TMEM61	55230194	0.918000	0.31147	0.004000	0.12327	0.012000	0.07955	1.484000	0.35508	0.532000	0.28657	0.462000	0.41574	GCC		0.627	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		35	59	1	0	8.16277e-20	1	8.82334e-20	35	59				
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs202011711	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:22545865G>C	ENST00000517539.1	+	8	1636	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_Missense_Mutation_p.A521P			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	521	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCTCACTGCCCTTCCACC	0.567																																						ENST00000424340.1																			0											c.(1561-1563)Gcc>Ccc		nuclear pore complex interacting protein family, member B5							15.0	10.0	11.0					16																	22545865		690	1587	2277	SO:0001583	missense	100132247							g.chr16:22545865G>C		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1561G>C	16.37:g.22545865G>C	ENSP00000430633:p.Ala521Pro		Somatic				NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	p.A521P	NM_001135865.1	NP_001129337.1	WXS	Illumina GAIIx	Phase_I					7	1840	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1561G>C	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.575	-0.839534	0.02692	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.18338	2.32;2.22;2.22;2.32	.	.	.	.	.	.	.	.	T	0.03136	0.0092	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.28618	-1.0038	7	0.08381	T	0.77	.	.	.	.	.	521;521	F5GWX0;A8MRT5	.;K220L_HUMAN	P	521;521;521;399;521;521;502	ENSP00000445388:A521P;ENSP00000440703:A521P;ENSP00000430633:A521P;ENSP00000431553:A521P	ENSP00000441680:A521P	A	+	1	0	RP11-368J21.2	22453366	.	.	0.003000	0.11579	0.003000	0.03518	.	.	-2.321000	0.00641	-2.362000	0.00238	GCC		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		4	458	0	0	0	1	0	4	458				
MGA	23269	broad.mit.edu	37	15	42042411	42042411	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:42042411T>A	ENST00000570161.1	+	16	6606	c.6606T>A	c.(6604-6606)atT>atA	p.I2202I	MGA_ENST00000566586.1_Silent_p.I1993I|MGA_ENST00000545763.1_Silent_p.I1993I|MGA_ENST00000219905.7_Silent_p.I2202I|MGA_ENST00000389936.4_Silent_p.I2163I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCAGTTAATTAAAGAAACAA	0.413																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6604-6606)atT>atA		MGA, MAX dimerization protein							136.0	133.0	134.0					15																	42042411		1864	4102	5966	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042411T>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6606T>A	15.37:g.42042411T>A			Somatic				MGA_ENST00000545763.1_Silent_p.I1993I|MGA_ENST00000566586.1_Silent_p.I1993I|MGA_ENST00000570161.1_Silent_p.I2202I|MGA_ENST00000389936.4_Silent_p.I2163I	p.I2202I	NM_001164273.1	NP_001157745.1	WXS	Illumina GAIIx	Phase_I	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6787	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2163					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.6606T>A	CCDS55959.1																																																																																				0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	172	0	0	0	1	0	5	172				
GRIA3	2892	broad.mit.edu	37	X	122536951	122536951	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:122536951T>A	ENST00000371251.1	+	8	1237		c.e8+2		GRIA3_ENST00000371256.5_Splice_Site|GRIA3_ENST00000264357.5_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TCTCGAAAAGTAAGTAACCAA	0.323																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.e8+2		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						102.0	99.0	100.0					X																	122536951		2203	4299	6502	SO:0001630	splice_region_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122536951T>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1185+2T>A	X.37:g.122536951T>A			Somatic				GRIA3_ENST00000371256.5_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site		NM_000828.4	NP_000819.3	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			8	1477	+								D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Splice_Site	SNP	ENST00000371251.1	37		CCDS14604.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593353	0.86953	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.019	0.64543	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA3	122364632	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.698000	0.84413	1.908000	0.55244	0.481000	0.45027	.		0.323	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	Intron	7	263	0	0	0	1	0	7	263				
OR51E1	143503	broad.mit.edu	37	11	4674702	4674702	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:4674702T>G	ENST00000396952.5	+	2	1596	c.946T>G	c.(946-948)Tca>Gca	p.S316A	OR51E1_ENST00000530215.1_3'UTR	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACACACGCTTCAGAGCCCTA	0.428																																						ENST00000396952.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(946-948)Tca>Gca		olfactory receptor, family 51, subfamily E, member 1							69.0	65.0	66.0					11																	4674702		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674702T>G	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.946T>G	11.37:g.4674702T>G	ENSP00000380155:p.Ser316Ala		Somatic				OR51E1_ENST00000530215.1_3'UTR	p.S316A	NM_152430.3	NP_689643.2	WXS	Illumina GAIIx	Phase_I	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1596	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	315					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.946T>G	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	T	0.225	-1.025671	0.02045	.	.	ENSG00000180785	ENST00000396952	T	0.08102	3.13	4.77	3.61	0.41365	.	0.161380	0.29431	N	0.012165	T	0.04003	0.0112	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.41215	-0.9521	10	0.27082	T	0.32	.	7.4792	0.27395	0.3487:0.0:0.0:0.6513	.	315	Q8TCB6	O51E1_HUMAN	A	316	ENSP00000380155:S316A	ENSP00000380155:S316A	S	+	1	0	OR51E1	4631278	0.007000	0.16637	0.012000	0.15200	0.007000	0.05969	0.121000	0.15667	0.926000	0.37118	0.533000	0.62120	TCA		0.428	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		215	397	0	0	0	1	0	215	397				
TOP3A	7156	broad.mit.edu	37	17	18188466	18188466	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:18188466T>A	ENST00000321105.5	-	15	2081	c.1867A>T	c.(1867-1869)Aaa>Taa	p.K623*	TOP3A_ENST00000542570.1_Nonsense_Mutation_p.K528*|TOP3A_ENST00000540524.1_Nonsense_Mutation_p.K153*	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	623					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTCTTTGCTTTAGCCACCGCT	0.458																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1867-1869)Aaa>Taa		topoisomerase (DNA) III alpha							183.0	183.0	183.0					17																	18188466		2203	4300	6503	SO:0001587	stop_gained	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18188466T>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1867A>T	17.37:g.18188466T>A	ENSP00000321636:p.Lys623*		Somatic				TOP3A_ENST00000542570.1_Nonsense_Mutation_p.K528*|TOP3A_ENST00000540524.1_Nonsense_Mutation_p.K153*	p.K623*	NM_004618.3	NP_004609.1	WXS	Illumina GAIIx	Phase_I	Q13472	TOP3A_HUMAN			15	2081	-			623					A8KA61|B4DK80|D3DXC7|Q13473	Nonsense_Mutation	SNP	ENST00000321105.5	37	c.1867A>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	36	5.748643	0.96882	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	.	.	.	5.54	4.39	0.52855	.	0.123113	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5595	13.8713	0.63622	0.0:0.0:0.1355:0.8645	.	.	.	.	X	623;153;528	.	ENSP00000321636:K623X	K	-	1	0	TOP3A	18129191	1.000000	0.71417	0.863000	0.33907	0.975000	0.68041	4.998000	0.63927	2.107000	0.64212	0.491000	0.48974	AAA		0.458	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			64	101	0	0	0	1	0	64	101				
APOB	338	broad.mit.edu	37	2	21228862	21228862	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:21228862A>T	ENST00000233242.1	-	26	11005	c.10878T>A	c.(10876-10878)acT>acA	p.T3626T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3626					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGTTCTTAGTGTTAGCAT	0.488																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10876-10878)acT>acA		apolipoprotein B	Atorvastatin(DB01076)						60.0	57.0	58.0					2																	21228862		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228862A>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10878T>A	2.37:g.21228862A>T			Somatic					p.T3626T	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	11005	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3626					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.10878T>A	CCDS1703.1																																																																																				0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			6	137	0	0	0	1	0	6	137				
KALRN	8997	broad.mit.edu	37	3	124211627	124211627	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:124211627T>G	ENST00000240874.3	+	32	4881	c.4724T>G	c.(4723-4725)aTt>aGt	p.I1575S	KALRN_ENST00000460856.1_Missense_Mutation_p.I1566S|KALRN_ENST00000360013.3_Missense_Mutation_p.I1575S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1575	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCAAGAACATTCGAGAAGTG	0.463																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4723-4725)aTt>aGt		kalirin, RhoGEF kinase							119.0	123.0	122.0					3																	124211627		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124211627T>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4724T>G	3.37:g.124211627T>G	ENSP00000240874:p.Ile1575Ser		Somatic				KALRN_ENST00000460856.1_Missense_Mutation_p.I1566S|KALRN_ENST00000240874.3_Missense_Mutation_p.I1575S	p.I1575S	NM_001024660.3	NP_001019831.2	WXS	Illumina GAIIx	Phase_I	O60229	KALRN_HUMAN			32	4851	+			1575			PH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4724T>G	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.435561|4.435561	0.83885|0.83885	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.19806	.|2.12;2.12;2.12	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48822|0.48822	0.1521|0.1521	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.989;1.0	.|D;D;D	.|0.91635	.|0.999;0.992;0.999	T|T	0.52961|0.52961	-0.8505|-0.8505	5|10	.|0.87932	.|D	.|0	.|.	15.5807|15.5807	0.76432|0.76432	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1566;1575;1575	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	V|S	1544|1566;1575;1575	.|ENSP00000418611:I1566S;ENSP00000240874:I1575S;ENSP00000353109:I1575S	.|ENSP00000240874:I1575S	F|I	+|+	1|2	0|0	KALRN|KALRN	125694317|125694317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.863000|7.863000	0.87023|0.87023	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.463	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		58	111	0	0	0	1	0	58	111				
THADA	63892	broad.mit.edu	37	2	43520354	43520354	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:43520354T>A	ENST00000405006.4	-	32	4790		c.e32-2		THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000415080.2_Splice_Site	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated											breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTCCAGAACTAAGAAGCAAA	0.458																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.e32-2		thyroid adenoma associated							45.0	46.0	46.0					2																	43520354		1874	4103	5977	SO:0001630	splice_region_variant	63892						binding	g.chr2:43520354T>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4439-2A>T	2.37:g.43520354T>A			Somatic				THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000330266.7_Intron		NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	WXS	Illumina GAIIx	Phase_I	Q6YHU6	THADA_HUMAN			32	4790	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)						A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Splice_Site	SNP	ENST00000405006.4	37		CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207844	0.58343	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000407351;ENST00000405006	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0848	0.59133	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THADA	43373858	1.000000	0.71417	0.968000	0.41197	0.869000	0.49853	4.479000	0.60236	2.126000	0.65437	0.529000	0.55759	.		0.458	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	Intron	4	92	0	0	0	1	0	4	92				
IFT80	57560	broad.mit.edu	37	3	160037570	160037570	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:160037570A>T	ENST00000326448.7	-	9	1367	c.935T>A	c.(934-936)tTa>tAa	p.L312*	IFT80_ENST00000483465.1_Nonsense_Mutation_p.L175*|IFT80_ENST00000496589.1_Nonsense_Mutation_p.L175*|RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.L483*	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	312					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTTTTCGTTAATGTTACTTG	0.373																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(934-936)tTa>tAa		intraflagellar transport 80 homolog (Chlamydomonas)							126.0	124.0	125.0					3																	160037570		2203	4300	6503	SO:0001587	stop_gained	57560					cilium axoneme|microtubule basal body		g.chr3:160037570A>T	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.935T>A	3.37:g.160037570A>T	ENSP00000312778:p.Leu312*		Somatic				RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.L483*|IFT80_ENST00000483465.1_Nonsense_Mutation_p.L175*|IFT80_ENST00000496589.1_Nonsense_Mutation_p.L175*	p.L312*	NM_020800.2	NP_065851.1	WXS	Illumina GAIIx	Phase_I	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		9	1367	-			312					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Nonsense_Mutation	SNP	ENST00000326448.7	37	c.935T>A	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	A	40	8.237072	0.98719	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	.	.	.	4.7	4.7	0.59300	.	0.000000	0.46758	U	0.000272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	14.6157	0.68547	1.0:0.0:0.0:0.0	.	.	.	.	X	312;175;175	.	ENSP00000312778:L312X	L	-	2	0	IFT80	161520264	1.000000	0.71417	0.914000	0.36105	0.680000	0.39746	8.587000	0.90810	2.083000	0.62718	0.454000	0.30748	TTA		0.373	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		7	149	0	0	0	1	0	7	149				
SRBD1	55133	broad.mit.edu	37	2	45832575	45832575	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:45832575T>A	ENST00000263736.4	-	2	68	c.6A>T	c.(4-6)tcA>tcT	p.S2S		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	2					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTGGCAATGATGACATCTAGA	0.343																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(4-6)tcA>tcT		S1 RNA binding domain 1							154.0	152.0	153.0					2																	45832575		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45832575T>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.6A>T	2.37:g.45832575T>A			Somatic					p.S2S	NM_018079.4	NP_060549.4	WXS	Illumina GAIIx	Phase_I	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		2	68	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	2					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.6A>T	CCDS1823.1																																																																																				0.343	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		112	138	0	0	0	1	0	112	138				
MRO	83876	broad.mit.edu	37	18	48335776	48335776	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:48335776T>A	ENST00000428869.2	-	4	255		c.e4-2		MRO_ENST00000256425.2_Splice_Site|MRO_ENST00000398439.3_Splice_Site|MRO_ENST00000588444.1_Splice_Site|MRO_ENST00000436348.2_Intron|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_Intron			Q9BYG7	MSTRO_HUMAN	maestro							nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCCATGGAACTAAAAACAAAA	0.428																																						ENST00000428869.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10						c.e4-2		maestro							73.0	68.0	69.0					18																	48335776		2203	4300	6503	SO:0001630	splice_region_variant	83876					nucleolus	binding	g.chr18:48335776T>A	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.4-2A>T	18.37:g.48335776T>A			Somatic				MRO_ENST00000256425.2_Splice_Site|MRO_ENST00000431965.2_Intron|MRO_ENST00000588444.1_Splice_Site|MRO_ENST00000587291.1_Intron|MRO_ENST00000436348.2_Intron|MRO_ENST00000398439.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	4	255	-		Colorectal(6;0.0596)						B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Splice_Site	SNP	ENST00000428869.2	37		CCDS11947.1																																																																																				0.428	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939	Intron	4	56	0	0	0	1	0	4	56				
EHHADH	1962	broad.mit.edu	37	3	184922240	184922240	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:184922240C>T	ENST00000231887.3	-	6	949	c.874G>A	c.(874-876)Gca>Aca	p.A292T	EHHADH_ENST00000456310.1_Missense_Mutation_p.A196T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	292	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CGCGCTGATGCTGTTTTCCAC	0.483																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(874-876)Gca>Aca		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						112.0	107.0	109.0					3																	184922240		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922240C>T	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.874G>A	3.37:g.184922240C>T	ENSP00000231887:p.Ala292Thr		Somatic				EHHADH_ENST00000456310.1_Missense_Mutation_p.A196T	p.A292T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	949	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		292			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.874G>A	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702534	0.30232	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.75704	-0.55;-0.96	5.53	3.49	0.39957	.	0.426413	0.27096	N	0.020959	T	0.71022	0.3291	L	0.58101	1.795	0.31197	N	0.700232	B	0.34241	0.444	B	0.39706	0.307	T	0.67894	-0.5552	10	0.12766	T	0.61	-12.9716	13.908	0.63848	0.3154:0.6846:0.0:0.0	.	292	Q08426	ECHP_HUMAN	T	292;292;196	ENSP00000231887:A292T;ENSP00000387746:A196T	ENSP00000231887:A292T	A	-	1	0	EHHADH	186404934	0.005000	0.15991	0.987000	0.45799	0.715000	0.41141	0.193000	0.17116	1.273000	0.44346	0.650000	0.86243	GCA		0.483	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			103	227	0	0	0	1	0	103	227				
RPTOR	57521	broad.mit.edu	37	17	78599514	78599514	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:78599514A>T	ENST00000306801.3	+	2	548	c.186A>T	c.(184-186)ttA>ttT	p.L62F	RPTOR_ENST00000570891.1_Missense_Mutation_p.L62F|RPTOR_ENST00000544334.2_Missense_Mutation_p.L62F|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	62					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTGTTGCCTTAGTTTTGTGCC	0.433																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(184-186)ttA>ttT		regulatory associated protein of MTOR, complex 1							219.0	172.0	188.0					17																	78599514		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78599514A>T		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.186A>T	17.37:g.78599514A>T	ENSP00000307272:p.Leu62Phe		Somatic				RPTOR_ENST00000544334.2_Missense_Mutation_p.L62F|RPTOR_ENST00000570891.1_Missense_Mutation_p.L62F|RPTOR_ENST00000537330.1_5'UTR	p.L62F	NM_020761.2	NP_065812.1	WXS	Illumina GAIIx	Phase_I	Q8N122	RPTOR_HUMAN			2	548	+			62					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.186A>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	a	20.2	3.943230	0.73672	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.59772	0.24;0.31	5.04	-3.39	0.04868	.	0.000000	0.53938	D	0.000049	T	0.78400	0.4277	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.991;0.999	T	0.81782	-0.0775	10	0.87932	D	0	.	14.3576	0.66748	0.3317:0.0:0.6683:0.0	.	62;62	F5H7J5;Q8N122	.;RPTOR_HUMAN	F	62	ENSP00000307272:L62F;ENSP00000442479:L62F	ENSP00000307272:L62F	L	+	3	2	RPTOR	76214109	1.000000	0.71417	0.682000	0.30024	0.992000	0.81027	0.589000	0.23939	-0.720000	0.04935	-0.253000	0.11424	TTA		0.433	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		10	769	0	0	0	1	0	10	769				
ADCY4	196883	broad.mit.edu	37	14	24795283	24795283	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:24795283A>T	ENST00000310677.4	-	13	1769		c.e13+1		ADCY4_ENST00000396747.3_Splice_Site|ADCY4_ENST00000418030.2_Splice_Site|ADCY4_ENST00000554068.2_Splice_Site	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTTCTCCGTACTTCTGCGAG	0.612																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e13+1		adenylate cyclase 4							79.0	75.0	76.0					14																	24795283		2203	4300	6503	SO:0001630	splice_region_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24795283A>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1655+1T>A	14.37:g.24795283A>T			Somatic				ADCY4_ENST00000418030.2_Splice_Site|ADCY4_ENST00000396747.3_Splice_Site|ADCY4_ENST00000554068.2_Splice_Site		NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	WXS	Illumina GAIIx	Phase_I	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	13	1769	-								B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Splice_Site	SNP	ENST00000310677.4	37		CCDS9627.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887445	0.52014	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2554	0.43394	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADCY4	23865123	1.000000	0.71417	0.996000	0.52242	0.738000	0.42128	4.573000	0.60893	1.938000	0.56188	0.482000	0.46254	.		0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		Intron	5	175	0	0	0	1	0	5	175				
HIST2H2AC	8338	broad.mit.edu	37	1	149858608	149858608	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:149858608A>G	ENST00000331380.2	+	1	84	c.84A>G	c.(82-84)gtA>gtG	p.V28V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	28						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGTTCCCGGTAGGGCGAGTGC	0.672																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(82-84)gtA>gtG		histone cluster 2, H2ac							62.0	69.0	67.0					1																	149858608		2203	4298	6501	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858608A>G	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.84A>G	1.37:g.149858608A>G			Somatic					p.V28V	NM_003517.2	NP_003508.1	WXS	Illumina GAIIx	Phase_I	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	84	+	Breast(34;0.0124)|all_hematologic(923;0.127)		28					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.84A>G	CCDS937.1																																																																																				0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		5	279	0	0	0	1	0	5	279				
TCEA2	6919	broad.mit.edu	37	20	62701613	62701613	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:62701613G>A	ENST00000343484.5	+	7	687	c.518G>A	c.(517-519)tGc>tAc	p.C173Y	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Splice_Site_p.C146Y	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	173	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACTTGCACGCATCTTCCGG	0.582											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361317.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12						c.e8-1		transcription elongation factor A (SII), 2							138.0	122.0	128.0					20																	62701613		2203	4300	6503	SO:0001630	splice_region_variant	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701613G>A	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.518-1G>A	20.37:g.62701613G>A			Somatic	OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1063	TCEA2_ENST00000343484.5_Splice_Site_p.C173_splice|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	p.C146_splice	NM_198723.1	NP_942016.1	WXS	Illumina GAIIx	Phase_I	Q15560	TCEA2_HUMAN			8	879	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		173			TFIIS central.		B3KNM1|Q8TD37|Q8TD38	Splice_Site	SNP	ENST00000343484.5	37	c.436_splice	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234795	0.01505	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.05	0.239	0.15484	.	1.312980	0.04713	N	0.417872	T	0.18882	0.0453	N	0.05050	-0.12	0.80722	D	1	.	.	.	.	.	.	T	0.39981	-0.9587	8	0.18710	T	0.47	.	0.9532	0.01380	0.2188:0.1372:0.3652:0.2788	.	.	.	.	Y	146;173;146;146;146	ENSP00000354552:C146Y;ENSP00000343515:C173Y;ENSP00000339432:C146Y;ENSP00000407085:C146Y;ENSP00000416026:C146Y	ENSP00000339432:C146Y	C	+	2	0	TCEA2	62172057	0.213000	0.23551	0.997000	0.53966	0.935000	0.57460	0.101000	0.15251	0.275000	0.22094	0.561000	0.74099	TGC		0.582	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723	Missense_Mutation	4	119	0	0	0	1	0	4	119				
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T	rs200623505		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.e3-1		PHD finger protein 3							84.0	85.0	84.0					6																	64389899		2203	4300	6503	SO:0001630	splice_region_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389899A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.245-1A>T	6.37:g.64389899A>T			Somatic				PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	584	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)							A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	SNP	ENST00000262043.3	37		CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369739	0.61624	.	.	ENSG00000118482	ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.87	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0911	0.48117	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF3	64447858	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.923000	0.63412	1.053000	0.40415	0.482000	0.46254	.		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		Intron	7	71	0	0	0	1	0	7	71				
BTAF1	9044	broad.mit.edu	37	10	93719733	93719733	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:93719733A>T	ENST00000265990.6	+	11	1394		c.e11-1		BTAF1_ENST00000471217.1_Splice_Site	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTCGTCTGTAGGTTGTGGCA	0.368																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.e11-1		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							100.0	97.0	98.0					10																	93719733		2203	4300	6503	SO:0001630	splice_region_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93719733A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1087-1A>T	10.37:g.93719733A>T			Somatic				BTAF1_ENST00000471217.1_Splice_Site		NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			11	1394	+		Colorectal(252;0.0846)						B4E0W6|O43578	Splice_Site	SNP	ENST00000265990.6	37		CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.823547	0.50739	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3629	0.74496	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTAF1	93709713	1.000000	0.71417	0.637000	0.29366	0.476000	0.33039	9.307000	0.96226	2.039000	0.60335	0.477000	0.44152	.		0.368	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	Intron	7	305	0	0	0	1	0	7	305				
VSIG4	11326	broad.mit.edu	37	X	65253460	65253460	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:65253460G>A	ENST00000374737.4	-	2	376	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	VSIG4_ENST00000412866.2_Missense_Mutation_p.H90Y|VSIG4_ENST00000455586.2_Missense_Mutation_p.H90Y	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	90	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAACCTTGTGGCTCACATGC	0.552																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(268-270)Cac>Tac		V-set and immunoglobulin domain containing 4							131.0	111.0	118.0					X																	65253460		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253460G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.268C>T	X.37:g.65253460G>A	ENSP00000363869:p.His90Tyr		Somatic				VSIG4_ENST00000374737.4_Missense_Mutation_p.H90Y|VSIG4_ENST00000412866.2_Missense_Mutation_p.H90Y	p.H90Y	NM_001184830.1	NP_001171759.1	WXS	Illumina GAIIx	Phase_I	Q9Y279	VSIG4_HUMAN			2	394	-			90			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.268C>T	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.615|3.615	-0.078798|-0.078798	0.07141|0.07141	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866|ENST00000427538	T;T;T|.	0.65178|.	-0.14;-0.14;-0.14|.	4.93|4.93	1.79|1.79	0.24919|0.24919	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.086990|.	0.07053|.	N|.	0.832236|.	T|T	0.39489|0.39489	0.1080|0.1080	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;P;B;B;B|.	0.40266|.	0.001;0.71;0.107;0.0;0.132|.	B;B;B;B;B|.	0.27796|.	0.001;0.083;0.061;0.0;0.082|.	T|T	0.31641|0.31641	-0.9936|-0.9936	10|5	0.18276|.	T|.	0.48|.	-1.2609|-1.2609	3.494|3.494	0.07648|0.07648	0.1057:0.1517:0.5627:0.1799|0.1057:0.1517:0.5627:0.1799	.|.	90;90;80;90;90|.	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279|.	.;.;.;.;VSIG4_HUMAN|.	Y|L	90|16	ENSP00000363869:H90Y;ENSP00000411581:H90Y;ENSP00000394143:H90Y|.	ENSP00000363869:H90Y|.	H|P	-|-	1|2	0|0	VSIG4|VSIG4	65170185|65170185	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	0.879000|0.879000	0.28146|0.28146	0.339000|0.339000	0.23719|0.23719	0.594000|0.594000	0.82650|0.82650	CAC|CCA		0.552	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		178	330	0	0	0	1	0	178	330				
OTUD7A	161725	broad.mit.edu	37	15	31851205	31851205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:31851205C>A	ENST00000307050.4	-	3	609	c.517G>T	c.(517-519)Gag>Tag	p.E173*	OTUD7A_ENST00000382902.1_Nonsense_Mutation_p.E173*	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	173	TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E173Q(1)|p.E173K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGCCTGCTCGATCAAGTCC	0.572																																						ENST00000382902.1																			2	Substitution - Missense(2)	p.E173Q(1)|p.E173K(1)	urinary_tract(1)|lung(1)	endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(517-519)Gag>Tag		OTU domain containing 7A							91.0	70.0	77.0					15																	31851205		2201	4300	6501	SO:0001587	stop_gained	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31851205C>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.517G>T	15.37:g.31851205C>A	ENSP00000305926:p.Glu173*		Somatic				OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.E173*	p.E173*			WXS	Illumina GAIIx	Phase_I	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	3	609	-		all_lung(180;1.6e-09)	173			TRAF-binding (By similarity).		Q8IWK5	Nonsense_Mutation	SNP	ENST00000307050.4	37	c.517G>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	37	6.287202	0.97444	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-35.9613	19.6626	0.95878	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000305926:E173X	E	-	1	0	OTUD7A	29638497	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.047000	0.76599	2.626000	0.88956	0.462000	0.41574	GAG		0.572	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		3	113	1	0	0.150653	1	0.152695	3	113				
NUDT19	390916	broad.mit.edu	37	19	33183154	33183154	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:33183154C>A	ENST00000397061.3	+	1	288	c.288C>A	c.(286-288)ttC>ttA	p.F96L	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	96	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CGGCGCCATTCAGCCGCACCG	0.726																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(286-288)ttC>ttA		nudix (nucleoside diphosphate linked moiety X)-type motif 19							17.0	20.0	19.0					19																	33183154		2021	4135	6156	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183154C>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.288C>A	19.37:g.33183154C>A	ENSP00000380251:p.Phe96Leu		Somatic					p.F96L	NM_001105570.1	NP_001099040.1	WXS	Illumina GAIIx	Phase_I	A8MXV4	NUD19_HUMAN			1	288	+	Esophageal squamous(110;0.137)		96			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000397061.3	37	c.288C>A	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	C	8.079	0.772012	0.16051	.	.	ENSG00000213965	ENST00000397061	T	0.39997	1.05	3.94	-4.76	0.03229	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.669254	0.12501	U	0.463338	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19910	-1.0291	10	0.19590	T	0.45	-34.8731	4.0995	0.10007	0.1165:0.2539:0.4612:0.1683	.	96	A8MXV4	NUD19_HUMAN	L	96	ENSP00000380251:F96L	ENSP00000380251:F96L	F	+	3	2	NUDT19	37874994	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.134000	0.15932	-0.625000	0.05604	0.313000	0.20887	TTC		0.726	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		6	16	1	0	0.217242	1	0.218999	6	16				
MGEA5	10724	broad.mit.edu	37	10	103565869	103565869	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:103565869C>T	ENST00000361464.3	-	6	1079	c.684G>A	c.(682-684)gtG>gtA	p.V228V	MGEA5_ENST00000357797.5_Silent_p.V228V|MGEA5_ENST00000370094.3_Silent_p.V228V|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000439817.1_Silent_p.V228V	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	228					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAGACTGAGACACATTTGGAT	0.353																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(682-684)gtG>gtA		meningioma expressed antigen 5 (hyaluronidase)							63.0	60.0	61.0					10																	103565869		2203	4300	6503	SO:0001819	synonymous_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103565869C>T	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.684G>A	10.37:g.103565869C>T			Somatic				MGEA5_ENST00000439817.1_Silent_p.V228V|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Silent_p.V228V|MGEA5_ENST00000357797.5_Silent_p.V228V	p.V228V	NM_012215.3	NP_036347.1	WXS	Illumina GAIIx	Phase_I	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	6	1079	-		Colorectal(252;0.207)	228					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	37	c.684G>A	CCDS7520.1																																																																																				0.353	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		9	24	0	0	0	1	0	9	24				
RNASEH2A	10535	broad.mit.edu	37	19	12921170	12921170	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:12921170G>C	ENST00000221486.4	+	6	683	c.589G>C	c.(589-591)Gag>Cag	p.E197Q		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	197					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCAGTTCGTGGAGAAACTGCA	0.567																																						ENST00000221486.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						c.(589-591)Gag>Cag		ribonuclease H2, subunit A							111.0	101.0	104.0					19																	12921170		2203	4300	6503	SO:0001583	missense	10535				DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12921170G>C	Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.589G>C	19.37:g.12921170G>C	ENSP00000221486:p.Glu197Gln		Somatic					p.E197Q	NM_006397.2	NP_006388.2	WXS	Illumina GAIIx	Phase_I	O75792	RNH2A_HUMAN			6	683	+			197					B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	c.589G>C	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594412	0.66219	.	.	ENSG00000104889	ENST00000221486	D	0.85861	-2.04	5.57	5.57	0.84162	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91725	0.5392	10	0.66056	D	0.02	-15.0013	18.3103	0.90197	0.0:0.0:1.0:0.0	.	197	O75792	RNH2A_HUMAN	Q	197	ENSP00000221486:E197Q	ENSP00000221486:E197Q	E	+	1	0	RNASEH2A	12782170	1.000000	0.71417	0.534000	0.28014	0.019000	0.09904	8.686000	0.91250	2.623000	0.88846	0.561000	0.74099	GAG		0.567	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		75	153	0	0	0	1	0	75	153				
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383																																						ENST00000188790.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e20-2		fibroblast activation protein, alpha							58.0	56.0	57.0					2																	163044875		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044875T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1620-2A>T	2.37:g.163044875T>A			Somatic				FAP_ENST00000443424.1_Splice_Site		NM_004460.2	NP_004451.2	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			20	1827	-									Splice_Site	SNP	ENST00000188790.4	37		CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641191	0.67244	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162753121	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.325000	0.79124	2.326000	0.78906	0.533000	0.62120	.		0.383	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	7	160	0	0	0	1	0	7	160				
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:37015253A>T	ENST00000255465.4	+	7	1362		c.e7-1		CCNA1_ENST00000418263.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site			P78396	CCNA1_HUMAN	cyclin A1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.e7-1		cyclin A1							126.0	105.0	112.0					13																	37015253		2203	4300	6503	SO:0001630	splice_region_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37015253A>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1099-1A>T	13.37:g.37015253A>T			Somatic				CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site		NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	7	1445	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Splice_Site	SNP	ENST00000255465.4	37		CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886322	0.72410	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3319	0.74219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNA1	35913253	1.000000	0.71417	0.988000	0.46212	0.833000	0.47200	8.941000	0.92964	2.076000	0.62316	0.460000	0.39030	.		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	Intron	4	95	0	0	0	1	0	4	95				
CFAP221	200373	broad.mit.edu	37	2	120388454	120388454	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:120388454G>T	ENST00000413369.3	+	19	2038	c.1951G>T	c.(1951-1953)Gat>Tat	p.D651Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.D365Y	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CATGTCTCTAGATTATGATCC	0.443																																						ENST00000602047.1																			0											c.(1093-1095)Gat>Tat									189.0	176.0	180.0					2																	120388454		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120388454G>T																												ENST00000413369.3:c.1951G>T	2.37:g.120388454G>T	ENSP00000393222:p.Asp651Tyr		Somatic				PCDP1_ENST00000413369.3_Missense_Mutation_p.D651Y	p.D365Y			WXS	Illumina GAIIx	Phase_I	Q4G0U5	PCDP1_HUMAN			20	2205	+	Colorectal(110;0.196)		651						Missense_Mutation	SNP	ENST00000413369.3	37	c.1093G>T	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.54|14.54	2.565389|2.565389	0.45694|0.45694	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000295220;ENST00000413369|ENST00000443972;ENST00000413057	T|.	0.33438|.	1.41|.	5.06|5.06	2.14|2.14	0.27477|0.27477	.|.	1.000500|.	0.08068|.	N|.	0.999452|.	T|.	0.22742|.	0.0549|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999999|0.999999	D;P|.	0.54964|.	0.969;0.955|.	P;P|.	0.51135|.	0.66;0.543|.	T|.	0.20240|.	-1.0281|.	10|.	0.72032|.	D|.	0.01|.	-3.4422|-3.4422	4.724|4.724	0.12933|0.12933	0.1847:0.0:0.6445:0.1708|0.1847:0.0:0.6445:0.1708	.|.	495;651|.	Q4G0U5-3;Q4G0U5|.	.;PCDP1_HUMAN|.	Y|Y	365;651|209;198	ENSP00000393222:D651Y|.	ENSP00000295220:D365Y|.	D|X	+|+	1|3	0|2	AC069154.2|AC069154.2	120104924|120104924	0.552000|0.552000	0.26505|0.26505	0.011000|0.011000	0.14972|0.14972	0.131000|0.131000	0.20780|0.20780	0.957000|0.957000	0.29215|0.29215	0.718000|0.718000	0.32166|0.32166	0.563000|0.563000	0.77884|0.77884	GAT|TAG		0.443	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			122	454	1	0	2.03726e-86	1	2.23442e-86	122	454				
EDRF1	26098	broad.mit.edu	37	10	127442400	127442400	+	Silent	SNP	T	T	A	rs377074556		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:127442400T>A	ENST00000356792.4	+	24	3763	c.3531T>A	c.(3529-3531)acT>acA	p.T1177T	RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Silent_p.T1143T|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TATCTTCAACTAAAAAGAAAA	0.333																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(3427-3429)acT>acA		chromosome 10 open reading frame 137							89.0	88.0	89.0					10																	127442400		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127442400T>A																												ENST00000356792.4:c.3531T>A	10.37:g.127442400T>A			Somatic				C10orf137_ENST00000356792.4_Silent_p.T1177T	p.T1143T	NM_015608.2	NP_056423.2	WXS	Illumina GAIIx	Phase_I	Q3B7T1	EDRF1_HUMAN			23	3534	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	1177					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.3429T>A	CCDS55733.1																																																																																				0.333	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			4	60	0	0	0	1	0	4	60				
SHPRH	257218	broad.mit.edu	37	6	146244777	146244777	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:146244777A>T	ENST00000367505.2	-	18	3810		c.e18+1		SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367503.3_Splice_Site|SHPRH_ENST00000438092.2_Splice_Site			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTTTTCTTACTTCTCTGAC	0.323																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.e18+1		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							148.0	132.0	137.0					6																	146244777		1817	4085	5902	SO:0001630	splice_region_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146244777A>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3545+1T>A	6.37:g.146244777A>T			Somatic				SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367505.2_Splice_Site		NM_001042683.2	NP_001036148.2	WXS	Illumina GAIIx	Phase_I	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	18	3971	-		Ovarian(120;0.0365)						Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Splice_Site	SNP	ENST00000367505.2	37		CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265911	0.80358	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8753	0.70491	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHPRH	146286470	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.207000	0.95064	1.923000	0.55706	0.482000	0.46254	.		0.323	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	Intron	4	77	0	0	0	1	0	4	77				
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448																																						ENST00000369219.1																			2	Substitution - Missense(2)	p.E481D(1)|p.K476Q(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)Aag>Cag		neuroblastoma breakpoint family, member 14		T	GLN/LYS	149,1589		11,127,731	3.0	3.0	3.0		1426		0.0	1	dbSNP_134	3	199,3727		1,197,1765	no	missense	NBPF14	NM_015383.1	53	12,324,2496	GG,GT,TT		5.0688,8.5731,6.1441	benign	476/922	148012533	348,5316	869	1963	2832	SO:0001583	missense	25832					cytoplasm		g.chr1:148012533T>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1426A>C	1.37:g.148012533T>G	ENSP00000358221:p.Lys476Gln		Somatic					p.K476Q			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			12	1442	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1426A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.001|0.001	-3.636353|-3.636353	0.00007|0.00007	0.085731|0.085731	0.050688|0.050688	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874|ENST00000369219;ENST00000434489	.|T	.|0.05199	.|3.48	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.00104|0.00104	-2.125|-2.125	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.43431	.|0.001;0.005;0.807	.|B;B;P	.|0.53518	.|0.01;0.023;0.728	T|T	0.31138|0.31138	-0.9954|-0.9954	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|143;590;476	.|E7EWM5;Q8IX74;Q5TI25	.|.;.;NBPFE_HUMAN	N|Q	481;486;486|476;141	.|ENSP00000358221:K476Q	.|ENSP00000358221:K476Q	K|K	-|-	3|1	2|0	NBPF14|NBPF14	146479157|146479157	0.953000|0.953000	0.32496|0.32496	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-1.318000|-1.318000	0.02705|0.02705	-1.050000|-1.050000	0.03230|0.03230	-1.115000|-1.115000	0.02055|0.02055	AAA|AAG		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		11	962	0	0	0	1	0	11	962				
DYNC1H1	1778	broad.mit.edu	37	14	102445654	102445654	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:102445654A>T	ENST00000360184.4	+	3	508		c.e3-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTTCTTTTTAGCTTGGCATT	0.358																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e3-1		dynein, cytoplasmic 1, heavy chain 1							67.0	71.0	70.0					14																	102445654		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102445654A>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.345-1A>T	14.37:g.102445654A>T			Somatic						NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			3	508	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37		CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653968	0.88056	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0993	0.81158	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101515407	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	8.930000	0.92872	2.207000	0.71202	0.459000	0.35465	.		0.358	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	5	112	0	0	0	1	0	5	112				
ABCA13	154664	broad.mit.edu	37	7	48269420	48269420	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:48269420A>T	ENST00000435803.1	+	7	656		c.e7-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTGGTTCTAGTTCCTTAAT	0.398																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.e7-1		ATP-binding cassette, sub-family A (ABC1), member 13							164.0	166.0	165.0					7																	48269420		1870	4103	5973	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48269420A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.633-1A>T	7.37:g.48269420A>T			Somatic						NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			7	656	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590645	0.66219	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3816	0.55309	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48239966	0.994000	0.37717	0.086000	0.20670	0.945000	0.59286	4.593000	0.61034	2.182000	0.69389	0.533000	0.62120	.		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	6	460	0	0	0	1	0	6	460				
CYP4F2	8529	broad.mit.edu	37	19	16003124	16003124	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:16003124T>C	ENST00000221700.6	-	5	615	c.520A>G	c.(520-522)Atg>Gtg	p.M174V	CYP4F2_ENST00000011989.7_Missense_Mutation_p.M25V	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCACGTGCATGATGTTCACA	0.502																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(520-522)Atg>Gtg		cytochrome P450, family 4, subfamily F, polypeptide 2							138.0	139.0	138.0					19																	16003124		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16003124T>C	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.520A>G	19.37:g.16003124T>C	ENSP00000221700:p.Met174Val		Somatic				CYP4F2_ENST00000592328.1_Missense_Mutation_p.M174V|CYP4F2_ENST00000011989.7_Missense_Mutation_p.M25V	p.M174V	NM_001082.3	NP_001073.3	WXS	Illumina GAIIx	Phase_I	P78329	CP4F2_HUMAN			5	615	-			174						Missense_Mutation	SNP	ENST00000221700.6	37	c.520A>G	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	t	14.56	2.571407	0.45798	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.68181	-0.31;-0.31	2.7	2.7	0.31948	.	0.128450	0.46758	U	0.000263	T	0.76285	0.3966	M	0.68952	2.095	0.37018	D	0.896055	D;D	0.61080	0.989;0.979	D;D	0.72075	0.976;0.956	T	0.80056	-0.1542	10	0.87932	D	0	.	8.8375	0.35121	0.0:0.0:0.0:1.0	.	25;174	B4DV75;P78329	.;CP4F2_HUMAN	V	174;25;25	ENSP00000221700:M174V;ENSP00000011989:M25V	ENSP00000011989:M25V	M	-	1	0	CYP4F2	15864124	1.000000	0.71417	0.883000	0.34634	0.341000	0.28922	2.653000	0.46691	1.218000	0.43458	0.240000	0.17902	ATG		0.502	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		4	548	0	0	0	1	0	4	548				
KIAA1407	57577	broad.mit.edu	37	3	113724672	113724672	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:113724672A>T	ENST00000295878.3	-	10	1697	c.1551T>A	c.(1549-1551)aaT>aaA	p.N517K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	517										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGTGCTGCTTATTGCCAGGTG	0.542																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1549-1551)aaT>aaA		KIAA1407							167.0	168.0	168.0					3																	113724672		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113724672A>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1551T>A	3.37:g.113724672A>T	ENSP00000295878:p.Asn517Lys		Somatic				KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348K	p.N517K	NM_020817.1	NP_065868.1	WXS	Illumina GAIIx	Phase_I	Q8NCU4	K1407_HUMAN			10	1697	-			517					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1551T>A	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	A	1.489	-0.555263	0.03967	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.41758	1.56;0.99;1.01	5.23	-1.74	0.08056	.	1.331770	0.04563	N	0.391973	T	0.25419	0.0618	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.11591	-1.0581	10	0.06494	T	0.89	.	2.5772	0.04809	0.2405:0.4569:0.1735:0.1291	.	504;393;517	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	K	517;348;504	ENSP00000295878:N517K;ENSP00000446381:N348K;ENSP00000418099:N504K	ENSP00000295878:N517K	N	-	3	2	KIAA1407	115207362	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.828000	0.04419	-0.442000	0.07190	-0.313000	0.08912	AAT		0.542	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		6	332	0	0	0	1	0	6	332				
DEPDC5	9681	broad.mit.edu	37	22	32272228	32272228	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:32272228T>A	ENST00000382112.3	+	36	3825	c.3755T>A	c.(3754-3756)gTa>gAa	p.V1252E	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1161E|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1261E|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V1261E|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V1230E|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V78E|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1239E|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1230E	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1261	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACAAGATAGTAACGGACAAA	0.517																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3781-3783)gTa>gAa		DEP domain containing 5							114.0	110.0	111.0					22																	32272228		1878	4113	5991	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32272228T>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3755T>A	22.37:g.32272228T>A	ENSP00000371546:p.Val1252Glu		Somatic				DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1261E|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1239E|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V78E|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1161E|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V1252E|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V1230E|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1230E	p.V1261E			WXS	Illumina GAIIx	Phase_I	O75140	DEPD5_HUMAN			37	3924	+			1230					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3782T>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	21.6|21.6	4.178987|4.178987	0.78564|0.78564	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T	.|0.15256	.|2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.16|5.16	4.12|4.12	0.48240|0.48240	.|DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.307855	.|0.30602	.|N	.|0.009279	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999997|0.999997	.|P;P;D;P;P;P	.|0.59357	.|0.905;0.736;0.985;0.928;0.883;0.933	.|P;B;P;P;B;B	.|0.56916	.|0.503;0.265;0.809;0.626;0.422;0.422	T|T	0.01390|0.01390	-1.1367|-1.1367	5|10	.|0.62326	.|D	.|0.03	.|.	7.4478|7.4478	0.27221|0.27221	0.0:0.1676:0.0:0.8324|0.0:0.1676:0.0:0.8324	.|.	.|1261;1161;647;1239;1252;1230	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	R|E	636|1161;1239;1230;1161;1261;1252;1261;1230;78	.|ENSP00000440210:V1161E;ENSP00000266091:V1239E;ENSP00000383108:V1230E;ENSP00000383105:V1261E;ENSP00000371546:V1252E;ENSP00000371545:V1261E;ENSP00000383107:V1230E;ENSP00000446286:V78E	.|ENSP00000266091:V1239E	S|V	+|+	3|2	2|0	DEPDC5|DEPDC5	30602228|30602228	1.000000|1.000000	0.71417|0.71417	0.697000|0.697000	0.30258|0.30258	0.960000|0.960000	0.62799|0.62799	3.533000|3.533000	0.53561|0.53561	0.819000|0.819000	0.34492|0.34492	0.524000|0.524000	0.50904|0.50904	AGT|GTA		0.517	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		5	350	0	0	0	1	0	5	350				
ERICH6	131831	broad.mit.edu	37	3	150398270	150398270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:150398270G>T	ENST00000295910.6	-	9	1148	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	FAM194A_ENST00000491361.1_Missense_Mutation_p.H220N	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAGAGAAATGAGTCTGTTCC	0.383																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1096-1098)Cat>Aat		family with sequence similarity 194, member A							206.0	184.0	192.0					3																	150398270		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150398270G>T																												ENST00000295910.6:c.1096C>A	3.37:g.150398270G>T	ENSP00000295910:p.His366Asn		Somatic				FAM194A_ENST00000491361.1_Missense_Mutation_p.H220N	p.H366N	NM_152394.3	NP_689607.2	WXS	Illumina GAIIx	Phase_I	Q7L0X2	F194A_HUMAN			9	1148	-			366						Missense_Mutation	SNP	ENST00000295910.6	37	c.1096C>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.575892	0.00887	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.12361	2.89;2.69	3.8	1.4	0.22301	.	2.083720	0.02116	N	0.055204	T	0.05731	0.0150	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31024	-0.9958	10	0.23302	T	0.38	-0.0015	8.235	0.31620	0.0:0.0:0.4332:0.5668	.	366	Q7L0X2	F194A_HUMAN	N	366;220;324	ENSP00000295910:H366N;ENSP00000419366:H220N	ENSP00000295910:H366N	H	-	1	0	FAM194A	151880960	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	0.297000	0.22615	-0.457000	0.05445	CAT		0.383	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			71	241	1	0	1.84514e-49	1	2.01779e-49	71	241				
ZFX	7543	broad.mit.edu	37	X	24225441	24225441	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:24225441A>T	ENST00000379177.1	+	7	1073		c.e7-1		ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000539115.1_Splice_Site|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000379188.3_Splice_Site	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked						death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTTCCTTTTTAGTGGATGATG	0.338																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.e7-1		zinc finger protein, X-linked							94.0	88.0	90.0					X																	24225441		2203	4300	6503	SO:0001630	splice_region_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24225441A>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.647-1A>T	X.37:g.24225441A>T			Somatic				ZFX_ENST00000379188.3_Splice_Site|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000539115.1_Splice_Site		NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			7	1073	+								B9EG97|O43668|Q8WYJ8	Splice_Site	SNP	ENST00000379177.1	37		CCDS14211.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267729	0.59540	.	.	ENSG00000005889	ENST00000379188;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000545937	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0178	0.64533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFX	24135362	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	8.910000	0.92685	1.755000	0.51935	0.481000	0.45027	.		0.338	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	Intron	6	223	0	0	0	1	0	6	223				
CPNE8	144402	broad.mit.edu	37	12	39047874	39047874	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:39047874T>A	ENST00000331366.5	-	20	1603		c.e20-2		CPNE8_ENST00000546603.1_Splice_Site|CPNE8_ENST00000360449.3_Splice_Site|CPNE8_ENST00000538596.2_Splice_Site	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TGGCACAAACTAAAACAGAGA	0.383																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.e20-2		copine VIII							66.0	60.0	62.0					12																	39047874		2203	4300	6503	SO:0001630	splice_region_variant	144402							g.chr12:39047874T>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1507-2A>T	12.37:g.39047874T>A			Somatic				CPNE8_ENST00000546603.1_Splice_Site|CPNE8_ENST00000538596.2_Splice_Site|CPNE8_ENST00000360449.3_Splice_Site		NM_153634.2	NP_705898.1	WXS	Illumina GAIIx	Phase_I	Q86YQ8	CPNE8_HUMAN			20	1603	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)						Q2TB41|Q86VY2	Splice_Site	SNP	ENST00000331366.5	37		CCDS8733.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404005	0.62288	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.122	0.65195	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPNE8	37334141	1.000000	0.71417	0.978000	0.43139	0.967000	0.64934	7.366000	0.79548	2.036000	0.60181	0.528000	0.53228	.		0.383	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	Intron	4	96	0	0	0	1	0	4	96				
OR4C3	256144	broad.mit.edu	37	11	48346532	48346532	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:48346532A>T	ENST00000319856.4	+	1	61	c.40A>T	c.(40-42)Ata>Tta	p.I14L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTTGTCTTTATAGGCAATAC	0.383																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(40-42)Ata>Tta		olfactory receptor, family 4, subfamily C, member 3							117.0	121.0	119.0					11																	48346532		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346532A>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.40A>T	11.37:g.48346532A>T	ENSP00000321419:p.Ile14Leu		Somatic					p.I14L	NM_001004702.1	NP_001004702.1	WXS	Illumina GAIIx	Phase_I	Q8NH37	OR4C3_HUMAN			1	61	+			167					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.40A>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.322273	0.60634	.	.	ENSG00000176547	ENST00000319856	T	0.07021	3.23	5.34	-8.53	0.00916	.	0.955375	0.08531	N	0.931981	T	0.05364	0.0142	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40327	-0.9569	7	0.54805	T	0.06	.	1.1821	0.01847	0.1422:0.2065:0.2472:0.4042	.	.	.	.	L	14	ENSP00000321419:I14L	ENSP00000321419:I14L	I	+	1	0	OR4C3	48303108	0.000000	0.05858	0.003000	0.11579	0.481000	0.33189	-0.268000	0.08607	-0.945000	0.03681	-0.404000	0.06349	ATA		0.383	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		5	280	0	0	0	1	0	5	280				
TTF2	8458	broad.mit.edu	37	1	117644000	117644000	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:117644000A>T	ENST00000369466.4	+	23	3388		c.e23-1		TTF2_ENST00000480701.1_Splice_Site	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTGTTTTTTAGATTTGTTTG	0.299																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e23-1		transcription termination factor, RNA polymerase II							62.0	74.0	70.0					1																	117644000		2199	4299	6498	SO:0001630	splice_region_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117644000A>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3345-1A>T	1.37:g.117644000A>T			Somatic				TTF2_ENST00000480701.1_Splice_Site		NM_003594.3	NP_003585.3	WXS	Illumina GAIIx	Phase_I	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	23	3388	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)						A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Splice_Site	SNP	ENST00000369466.4	37		CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210087	0.58343	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3131	0.66429	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTF2	117445523	1.000000	0.71417	0.854000	0.33618	0.615000	0.37417	8.778000	0.91785	2.322000	0.78497	0.528000	0.53228	.		0.299	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		Intron	4	55	0	0	0	1	0	4	55				
ASNSD1	54529	broad.mit.edu	37	2	190531591	190531591	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:190531591A>T	ENST00000260952.4	+	4	1146	c.733A>T	c.(733-735)Aat>Tat	p.N245Y	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	245					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTTCCTTTAAATATGATGTT	0.378																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(733-735)Aat>Tat		asparagine synthetase domain containing 1							80.0	86.0	84.0					2																	190531591		2201	4298	6499	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531591A>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.733A>T	2.37:g.190531591A>T	ENSP00000260952:p.Asn245Tyr		Somatic				ASNSD1_ENST00000607062.1_Intron	p.N245Y	NM_019048.2	NP_061921.1	WXS	Illumina GAIIx	Phase_I	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1146	+			245					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.733A>T	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.105504	0.77096	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.32753	1.44;1.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59888	-0.7369	10	0.62326	D	0.03	-11.5971	16.8222	0.85835	1.0:0.0:0.0:0.0	.	245	Q9NWL6	ASND1_HUMAN	Y	245	ENSP00000260952:N245Y;ENSP00000406790:N245Y	ENSP00000260952:N245Y	N	+	1	0	ASNSD1	190239836	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	8.879000	0.92398	2.371000	0.80710	0.533000	0.62120	AAT		0.378	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		5	244	0	0	0	1	0	5	244				
PRAMEF2	65122	broad.mit.edu	37	1	12921210	12921210	+	Missense_Mutation	SNP	G	G	A	rs141943881	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:12921210G>A	ENST00000240189.2	+	4	1088	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	334					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTTCCGCATCAGTCTT	0.507													.|||	3	0.000599042	0.0	0.0	5008	,	,		22717	0.001		0.002	False		,,,				2504	0.0					ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1000-1002)cGc>cAc		PRAME family member 2		G	HIS/ARG	0,4404		0,0,2202	182.0	182.0	182.0		1001	-1.1	0.0	1	dbSNP_134	182	12,8576	9.1+/-34.3	0,12,4282	no	missense	PRAMEF2	NM_023014.1	29	0,12,6484	AA,AG,GG		0.1397,0.0,0.0924	probably-damaging	334/475	12921210	12,12980	2202	4294	6496	SO:0001583	missense	65122							g.chr1:12921210G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1001G>A	1.37:g.12921210G>A	ENSP00000240189:p.Arg334His		Somatic					p.R334H	NM_023014.1	NP_075390.1	WXS	Illumina GAIIx	Phase_I	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1088	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	334						Missense_Mutation	SNP	ENST00000240189.2	37	c.1001G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.106279	0.01828	0.0	0.001397	ENSG00000120952	ENST00000240189	T	0.00940	5.52	0.766	-1.08	0.09936	.	4.154090	0.00851	N	0.001827	T	0.00524	0.0017	N	0.02315	-0.6	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.45308	-0.9270	10	0.13853	T	0.58	.	3.048	0.06160	0.6485:0.0:0.3515:0.0	.	334	O60811	PRAM2_HUMAN	H	334	ENSP00000240189:R334H	ENSP00000240189:R334H	R	+	2	0	PRAMEF2	12843797	0.000000	0.05858	0.001000	0.08648	0.159000	0.22180	-0.130000	0.10498	-0.263000	0.09378	0.089000	0.15464	CGC		0.507	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		6	969	0	0	0	1	0	6	969				
SLC5A12	159963	broad.mit.edu	37	11	26734255	26734255	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:26734255T>A	ENST00000396005.3	-	2	649		c.e2-2		SLC5A12_ENST00000280467.6_Splice_Site	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12						sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTAAGTACTAAAGGAAACA	0.428																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.e2-2		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							263.0	229.0	241.0					11																	26734255		2203	4299	6502	SO:0001630	splice_region_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734255T>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.340-2A>T	11.37:g.26734255T>A			Somatic				SLC5A12_ENST00000280467.6_Splice_Site		NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	Q1EHB4	SC5AC_HUMAN			2	649	-								Q86UC7	Splice_Site	SNP	ENST00000396005.3	37		CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	19.36	3.811802	0.70797	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.878	0.70510	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC5A12	26690831	1.000000	0.71417	0.990000	0.47175	0.741000	0.42261	7.466000	0.80914	2.040000	0.60383	0.533000	0.62120	.		0.428	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	Intron	9	899	0	0	0	1	0	9	899				
BTAF1	9044	broad.mit.edu	37	10	93756124	93756124	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:93756124A>T	ENST00000265990.6	+	24	3617		c.e24-1		BTAF1_ENST00000544642.1_5'Flank	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTGTTTTTAGTTGGTCCAG	0.358																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.e24-1		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							109.0	93.0	98.0					10																	93756124		2203	4300	6503	SO:0001630	splice_region_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93756124A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3310-1A>T	10.37:g.93756124A>T			Somatic						NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			24	3617	+		Colorectal(252;0.0846)						B4E0W6|O43578	Splice_Site	SNP	ENST00000265990.6	37		CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183098	0.78677	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTAF1	93746104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	.		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	Intron	7	101	0	0	0	1	0	7	101				
GNB1	2782	broad.mit.edu	37	1	1721888	1721888	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:1721888T>G	ENST00000378609.4	-	9	976	c.645A>C	c.(643-645)gaA>gaC	p.E215D		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	215					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCACATGCCTTCTCGCACAT	0.567																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(643-645)gaA>gaC		guanine nucleotide binding protein (G protein), beta polypeptide 1							122.0	99.0	107.0					1																	1721888		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1721888T>G	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.645A>C	1.37:g.1721888T>G	ENSP00000367872:p.Glu215Asp		Somatic					p.E215D	NM_002074.3	NP_002065.1	WXS	Illumina GAIIx	Phase_I	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	976	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	215					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.645A>C	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.859|7.859	0.725653|0.725653	0.15439|0.15439	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.01265|.	5.08|.	5.43|5.43	4.3|4.3	0.51218|0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.094537|.	0.64402|.	D|.	0.000001|.	T|T	0.41627|0.41627	0.1167|0.1167	N|N	0.20304|0.20304	0.555|0.555	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.17258|0.17258	-1.0375|-1.0375	10|5	0.26408|.	T|.	0.33|.	-12.7705|-12.7705	10.4324|10.4324	0.44415|0.44415	0.0:0.0763:0.0:0.9237|0.0:0.0763:0.0:0.9237	.|.	215|.	P62873|.	GBB1_HUMAN|.	D|T	215;115;215|73	ENSP00000367872:E215D|.	ENSP00000367869:E215D|.	E|K	-|-	3|2	2|0	GNB1|GNB1	1711748|1711748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.687000|1.687000	0.37680|0.37680	0.902000|0.902000	0.36520|0.36520	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.567	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		57	119	0	0	0	1	0	57	119				
SLC12A2	6558	broad.mit.edu	37	5	127507357	127507357	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:127507357A>T	ENST00000262461.2	+	19	2912		c.e19-1		SLC12A2_ENST00000343225.4_Splice_Site	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2						ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ttttgttcttAGTGATGCTTT	0.269																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.e19-1		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						81.0	88.0	86.0					5																	127507357		2203	4296	6499	SO:0001630	splice_region_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127507357A>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2724-1A>T	5.37:g.127507357A>T			Somatic				SLC12A2_ENST00000343225.4_Splice_Site		NM_001046.2	NP_001037.1	WXS	Illumina GAIIx	Phase_I	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	19	2912	+		all_cancers(142;0.0972)|Prostate(80;0.151)						Q8N713|Q8WWH7	Splice_Site	SNP	ENST00000262461.2	37		CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.093048	0.56075	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1644	0.72811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A2	127535256	1.000000	0.71417	0.935000	0.37517	0.585000	0.36419	8.508000	0.90525	2.232000	0.73038	0.528000	0.53228	.		0.269	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	Intron	4	219	0	0	0	1	0	4	219				
PHF8	23133	broad.mit.edu	37	X	54049278	54049278	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:54049278T>A	ENST00000357988.5	-	3	565		c.e3-2		PHF8_ENST00000338946.6_Splice_Site|PHF8_ENST00000338154.6_Splice_Site|PHF8_ENST00000322659.8_Splice_Site	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAACACAACTGAAAAAGAGA	0.413																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.e3-2		PHD finger protein 8							40.0	31.0	34.0					X																	54049278		2203	4300	6503	SO:0001630	splice_region_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54049278T>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.207-2A>T	X.37:g.54049278T>A			Somatic				PHF8_ENST00000357988.5_Splice_Site|PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000338946.6_Splice_Site		NM_015107.2	NP_055922.1	WXS	Illumina GAIIx	Phase_I	Q9UPP1	PHF8_HUMAN			3	603	-								B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Splice_Site	SNP	ENST00000357988.5	37		CCDS55420.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946654	0.73672	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.538	0.61657	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF8	54066003	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.989000	0.88205	1.840000	0.53500	0.437000	0.28790	.		0.413	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	Intron	5	112	0	0	0	1	0	5	112				
PKHD1	5314	broad.mit.edu	37	6	51935870	51935870	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:51935870T>A	ENST00000371117.3	-	9	878		c.e9-2		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAGGATAACTAAGGAAAAGA	0.403																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.e9-2		polycystic kidney and hepatic disease 1 (autosomal recessive)							86.0	83.0	84.0					6																	51935870		2203	4300	6503	SO:0001630	splice_region_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51935870T>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.603-2A>T	6.37:g.51935870T>A			Somatic				PKHD1_ENST00000340994.4_Splice_Site		NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			9	878	-	Lung NSC(77;0.0605)							Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	ENST00000371117.3	37		CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643338	0.29246	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.957	0.58434	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	52043829	1.000000	0.71417	0.781000	0.31783	0.120000	0.20174	4.438000	0.59961	2.178000	0.69098	0.529000	0.55759	.		0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Intron	6	301	0	0	0	1	0	6	301				
FGFR4	2264	broad.mit.edu	37	5	176520544	176520544	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:176520544C>G	ENST00000292408.4	+	10	1634	c.1389C>G	c.(1387-1389)ccC>ccG	p.P463P	FGFR4_ENST00000393637.1_Silent_p.P423P|FGFR4_ENST00000292410.3_Silent_p.P423P|FGFR4_ENST00000502906.1_Silent_p.P463P|FGFR4_ENST00000393648.2_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	463					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGGAGTTCCCCCGGGACAGGT	0.682										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1387-1389)ccC>ccG		fibroblast growth factor receptor 4	Palifermin(DB00039)						55.0	62.0	59.0					5																	176520544		2203	4300	6503	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520544C>G	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1389C>G	5.37:g.176520544C>G		TSP Lung(9;0.080)	Somatic				FGFR4_ENST00000393637.1_Silent_p.P423P|FGFR4_ENST00000292410.3_Silent_p.P423P|FGFR4_ENST00000502906.1_Silent_p.P463P|FGFR4_ENST00000393648.2_Intron	p.P463P	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	WXS	Illumina GAIIx	Phase_I	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1634	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	463					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.1389C>G	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	9.784	1.176197	0.21704	.	.	ENSG00000160867	ENST00000511076	D	0.90563	-2.69	4.6	3.74	0.42951	.	0.106799	0.64402	D	0.000003	D	0.91482	0.7311	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90560	0.4515	7	0.59425	D	0.04	.	8.2793	0.31892	0.1551:0.7615:0.0:0.0834	.	.	.	.	A	95	ENSP00000424670:P95A	ENSP00000424670:P95A	P	+	1	0	FGFR4	176453150	0.842000	0.29525	1.000000	0.80357	0.929000	0.56500	-0.077000	0.11394	1.166000	0.42689	0.555000	0.69702	CCG		0.682	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			8	534	0	0	0	1	0	8	534				
OR2AG1	144125	broad.mit.edu	37	11	6806985	6806985	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:6806985C>T	ENST00000307401.4	+	1	738	c.717C>T	c.(715-717)gtC>gtT	p.V239V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGCCCTTGTCACCTGCTCTT	0.493																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(715-717)gtC>gtT		olfactory receptor, family 2, subfamily AG, member 1							193.0	169.0	177.0					11																	6806985		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806985C>T	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.717C>T	11.37:g.6806985C>T			Somatic					p.V239V	NM_001004489.2	NP_001004489.1	WXS	Illumina GAIIx	Phase_I	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	738	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	239					B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.717C>T	CCDS31414.1																																																																																				0.493	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		16	218	0	0	0	1	0	16	218				
CMC4	100272147	broad.mit.edu	37	X	154292310	154292310	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:154292310T>A	ENST00000369484.3	-	2	669		c.e2-2		MTCP1_ENST00000482244.1_5'Flank|CMC4_ENST00000369479.1_Splice_Site|MTCP1_ENST00000369476.3_3'UTR	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4						cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											TCCAGAAAACTAAAACAAGAA	0.338																																						ENST00000369484.3																			0											c.e2-2		C-x(9)-C motif containing 4							69.0	76.0	74.0					X																	154292310		2203	4299	6502	SO:0001630	splice_region_variant	100272147							g.chrX:154292310T>A		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.10-2A>T	X.37:g.154292310T>A			Somatic				CMC4_ENST00000369479.1_Splice_Site|MTCP1_ENST00000369476.3_3'UTR		NM_001018024.2	NP_001018024.1	WXS	Illumina GAIIx	Phase_I					2	669	-								Q5HYP9	Splice_Site	SNP	ENST00000369484.3	37		CCDS14764.1																																																																																				0.338	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2	Intron	6	66	0	0	0	1	0	6	66				
RXFP2	122042	broad.mit.edu	37	13	32365941	32365941	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:32365941A>T	ENST00000298386.2	+	15	1216		c.e15-1		RXFP2_ENST00000380314.1_Splice_Site	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTGACTTTAGTTATTTCAA	0.433																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.e15-1		relaxin/insulin-like family peptide receptor 2							124.0	113.0	117.0					13																	32365941		2203	4300	6503	SO:0001630	splice_region_variant	122042					integral to membrane|plasma membrane		g.chr13:32365941A>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1146-1A>T	13.37:g.32365941A>T			Somatic				RXFP2_ENST00000380314.1_Splice_Site		NM_130806.3	NP_570718.1	WXS	Illumina GAIIx	Phase_I	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	15	1216	+		Lung SC(185;0.0262)						B1ALE9|Q3KU23	Splice_Site	SNP	ENST00000298386.2	37		CCDS9342.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525117	0.85600	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.772	0.63032	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RXFP2	31263941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.101000	0.94219	2.150000	0.67090	0.533000	0.62120	.		0.433	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	Intron	4	102	0	0	0	1	0	4	102				
TTN	7273	broad.mit.edu	37	2	179460510	179460510	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:179460510A>G	ENST00000591111.1	-	245	52872	c.52648T>C	c.(52648-52650)Ttc>Ctc	p.F17550L	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F10318L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F16623L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F10251L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F19191L|TTN_ENST00000460472.2_Missense_Mutation_p.F10126L|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17550	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGCTAGGAATGGTGTTCCA	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(57571-57573)Ttc>Ctc		titin							71.0	64.0	66.0					2																	179460510		1884	4122	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179460510A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52648T>C	2.37:g.179460510A>G	ENSP00000465570:p.Phe17550Leu		Somatic				TTN_ENST00000342175.6_Missense_Mutation_p.F10318L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F16623L|TTN_ENST00000359218.5_Missense_Mutation_p.F10251L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F17550L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F10126L|TTN-AS1_ENST00000456053.1_RNA	p.F19191L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		295	57795	-			17550			Ig-like 108.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.57571T>C		.	.	.	.	.	.	.	.	.	.	A	17.38	3.375842	0.61735	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	6.05	6.05	0.98169	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29620	0.0739	N	0.04705	-0.18	0.58432	D	0.999993	B;B;B;B	0.20550	0.046;0.046;0.046;0.046	B;B;B;B	0.22601	0.04;0.04;0.04;0.04	T	0.15607	-1.0431	9	0.87932	D	0	.	12.362	0.55209	0.9331:0.0:0.0669:0.0	.	10126;10251;10318;17550	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16623;10126;10318;10251;10124	ENSP00000343764:F16623L;ENSP00000434586:F10126L;ENSP00000340554:F10318L;ENSP00000352154:F10251L	ENSP00000340554:F10318L	F	-	1	0	TTN	179168756	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.483000	0.81158	2.320000	0.78422	0.528000	0.53228	TTC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	31	0	0	0	1	0	4	31				
ENPP4	22875	broad.mit.edu	37	6	46111011	46111011	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:46111011A>T	ENST00000321037.4	+	4	1227		c.e4-1			NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)						blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTTCTTTTTCAGTAGGTGACC	0.358																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.e4-1		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							125.0	126.0	126.0					6																	46111011		2203	4299	6502	SO:0001630	splice_region_variant	22875					integral to membrane	hydrolase activity	g.chr6:46111011A>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.998-1A>T	6.37:g.46111011A>T			Somatic						NM_014936.4	NP_055751.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X5	ENPP4_HUMAN			4	1227	+								A8K5G1|Q7L2N1	Splice_Site	SNP	ENST00000321037.4	37		CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416728	0.83449	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP4	46218970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.160000	0.67779	0.528000	0.53228	.		0.358	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2		Intron	5	317	0	0	0	1	0	5	317				
KIAA1324	57535	broad.mit.edu	37	1	109740155	109740155	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:109740155G>A	ENST00000369939.3	+	16	2364	c.2181G>A	c.(2179-2181)gaG>gaA	p.E727E	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.E640E	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	727					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGAGGGTGAGTCAGGGTTCT	0.552																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2179-2181)gaG>gaA		KIAA1324							86.0	84.0	85.0					1																	109740155		2203	4300	6503	SO:0001819	synonymous_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109740155G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2181G>A	1.37:g.109740155G>A			Somatic				KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.E640E	p.E727E	NM_020775.4	NP_065826.2	WXS	Illumina GAIIx	Phase_I	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	16	2364	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	727					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	c.2181G>A	CCDS794.1																																																																																				0.552	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		5	174	0	0	0	1	0	5	174				
MEGF10	84466	broad.mit.edu	37	5	126666981	126666981	+	Splice_Site	SNP	A	A	T	rs367819491		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:126666981A>T	ENST00000274473.6	+	3	249		c.e3-1		MEGF10_ENST00000508365.1_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCTTTCTTGTAGGTTGTTCTT	0.383																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.e3-1		multiple EGF-like-domains 10							75.0	74.0	74.0					5																	126666981		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126666981A>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.-18-1A>T	5.37:g.126666981A>T			Somatic				MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site|MEGF10_ENST00000508365.1_Splice_Site		NM_032446.2	NP_115822.1	WXS	Illumina GAIIx	Phase_I	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	3	249	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37		CCDS4142.1																																																																																				0.383	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	4	54	0	0	0	1	0	4	54				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A			Somatic						NM_006540.2	NP_006531.1	WXS	Illumina GAIIx	Phase_I	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	5	164	0	0	0	1	0	5	164				
IDS	3423	broad.mit.edu	37	X	148586585	148586585	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:148586585G>C	ENST00000340855.6	-	1	292	c.83C>G	c.(82-84)aCg>aGg	p.T28R	IDS_ENST00000370443.4_Missense_Mutation_p.T28R|IDS_ENST00000370441.4_Missense_Mutation_p.T28R|IDS_ENST00000427113.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000422081.2_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.T28R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	28					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GTTGGCCTGCGTTTCGGATCC	0.647																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	GRCh37	CI962295	IDS	I		c.(82-84)aCg>aGg		iduronate 2-sulfatase							99.0	74.0	82.0					X																	148586585		2202	4300	6502	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148586585G>C	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.83C>G	X.37:g.148586585G>C	ENSP00000339801:p.Thr28Arg		Somatic				IDS_ENST00000541269.1_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.T28R|IDS_ENST00000370443.4_Missense_Mutation_p.T28R|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Missense_Mutation_p.T28R	p.T28R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	WXS	Illumina GAIIx	Phase_I	P22304	IDS_HUMAN			1	292	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		28					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.83C>G	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491886	0.26774	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.99462	-5.62;-5.61;-5.6;-5.94;-4.91	3.33	0.457	0.16661	.	0.681480	0.12849	N	0.434066	D	0.95999	0.8697	N	0.14661	0.345	0.09310	N	1	P;B;B	0.35242	0.492;0.001;0.001	B;B;B	0.31442	0.13;0.001;0.001	D	0.94466	0.7680	10	0.59425	D	0.04	.	2.6087	0.04885	0.2701:0.0:0.5022:0.2277	.	28;28;28	O60597;P22304-2;P22304	.;.;IDS_HUMAN	R	28	ENSP00000339801:T28R;ENSP00000359470:T28R;ENSP00000359472:T28R;ENSP00000390241:T28R;ENSP00000429745:T28R	ENSP00000339801:T28R	T	-	2	0	IDS	148394489	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.488000	0.06497	-0.025000	0.13918	-0.269000	0.10298	ACG		0.647	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			90	164	0	0	0	1	0	90	164				
ATP6V0A1	535	broad.mit.edu	37	17	40630546	40630546	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:40630546G>T	ENST00000343619.4	+	7	695	c.572G>T	c.(571-573)tGc>tTc	p.C191F	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000544137.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	191					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.C191F(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGCGGGTATGCCGGGGAAAT	0.532																																						ENST00000343619.4																			2	Substitution - Missense(2)	p.C191F(2)	lung(1)|kidney(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(571-573)tGc>tTc		ATPase, H+ transporting, lysosomal V0 subunit a1							109.0	93.0	98.0					17																	40630546		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40630546G>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.572G>T	17.37:g.40630546G>T	ENSP00000342951:p.Cys191Phe		Somatic				ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F	p.C191F	NM_001130021.1	NP_001123493.1	WXS	Illumina GAIIx	Phase_I	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	7	695	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	191					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.572G>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116508	0.94385	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.81614	2.55	0.80722	D	1	D;P;P;D;P	0.89917	1.0;0.93;0.572;1.0;0.839	D;P;P;D;P	0.97110	1.0;0.819;0.649;0.999;0.601	D	0.93817	0.7115	10	0.66056	D	0.02	-20.9064	20.3931	0.98965	0.0:0.0:1.0:0.0	.	148;148;198;191;191	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	F	191;191;191;198;148	ENSP00000342951:C191F;ENSP00000444676:C191F;ENSP00000377415:C191F;ENSP00000264649:C198F;ENSP00000443991:C148F	ENSP00000264649:C198F	C	+	2	0	ATP6V0A1	37884072	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.894000	0.87336	2.824000	0.97209	0.655000	0.94253	TGC		0.532	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		8	110	1	0	1.12685e-05	1	1.16743e-05	8	110				
RYR2	6262	broad.mit.edu	37	1	237982465	237982465	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:237982465A>T	ENST00000366574.2	+	101	14880	c.14563A>T	c.(14563-14565)Att>Ttt	p.I4855F	RYR2_ENST00000542537.1_Missense_Mutation_p.I4839F|RYR2_ENST00000360064.6_Missense_Mutation_p.I4861F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4855					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTCTTTGTTATTGTCATTCT	0.408																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14563-14565)Att>Ttt		ryanodine receptor 2 (cardiac)							228.0	226.0	226.0					1																	237982465		1936	4133	6069	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237982465A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14563A>T	1.37:g.237982465A>T	ENSP00000355533:p.Ile4855Phe		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.I4861F|RYR2_ENST00000542537.1_Missense_Mutation_p.I4839F	p.I4855F	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		101	14880	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4855					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14563A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.820720	0.90873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98512	-4.97;-4.97;-4.97	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.64402	U	0.000013	D	0.99199	0.9722	M	0.94021	3.485	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.81914	0.988;0.995	D	0.99180	1.0867	10	0.87932	D	0	.	15.7638	0.78110	1.0:0.0:0.0:0.0	.	288;4855	F5H3C7;Q92736	.;RYR2_HUMAN	F	4855;4861;4839;288	ENSP00000355533:I4855F;ENSP00000353174:I4861F;ENSP00000443798:I4839F	ENSP00000353174:I4861F	I	+	1	0	RYR2	236049088	1.000000	0.71417	0.887000	0.34795	0.909000	0.53808	9.287000	0.95975	2.126000	0.65437	0.533000	0.62120	ATT		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	318	0	0	0	1	0	7	318				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C			Somatic						NR_024251.1		WXS	Illumina GAIIx	Phase_I					0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		10	479	0	0	0	1	0	10	479				
WDFY3	23001	broad.mit.edu	37	4	85704229	85704229	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:85704229T>A	ENST00000295888.4	-	25	4470		c.e25-2		WDFY3_ENST00000322366.6_Splice_Site	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATGCCTAACTGAAAAATAGG	0.373																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e25-2		WD repeat and FYVE domain containing 3							83.0	82.0	83.0					4																	85704229		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85704229T>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4063-2A>T	4.37:g.85704229T>A			Somatic				WDFY3_ENST00000295888.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	25	4470	-		Hepatocellular(203;0.114)						Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	ENST00000295888.4	37		CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873290	0.91664	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0723	0.80943	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY3	85923253	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.031000	0.88826	2.199000	0.70637	0.528000	0.53228	.		0.373	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Intron	5	261	0	0	0	1	0	5	261				
SSUH2	51066	broad.mit.edu	37	3	8673776	8673776	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:8673776C>A	ENST00000317371.4	-	12	1518	c.293G>T	c.(292-294)aGt>aTt	p.S98I	SSUH2_ENST00000544814.1_Missense_Mutation_p.S120I|SSUH2_ENST00000415132.1_Missense_Mutation_p.S98I|SSUH2_ENST00000341795.3_Missense_Mutation_p.S98I			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	98						cytoplasm (GO:0005737)											CCTGGATTCACTAAAGGTCTC	0.423																																						ENST00000317371.4																			0											c.(292-294)aGt>aTt		ssu-2 homolog (C. elegans)							96.0	92.0	93.0					3																	8673776		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8673776C>A	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.293G>T	3.37:g.8673776C>A	ENSP00000324551:p.Ser98Ile		Somatic				SSUH2_ENST00000415132.1_Missense_Mutation_p.S98I|SSUH2_ENST00000341795.3_Missense_Mutation_p.S98I|SSUH2_ENST00000544814.1_Missense_Mutation_p.S120I	p.S98I			WXS	Illumina GAIIx	Phase_I					12	1518	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.293G>T	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914881	0.52546	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.46819	0.98;0.98;0.98;1.0;0.86	5.17	4.29	0.51040	.	0.248953	0.44285	D	0.000471	T	0.35158	0.0922	L	0.48642	1.525	0.34993	D	0.755243	B;P	0.45474	0.156;0.859	B;B	0.37304	0.106;0.246	T	0.48703	-0.9012	10	0.33141	T	0.24	-26.282	8.6627	0.34101	0.0:0.8985:0.0:0.1015	.	120;98	F5H2S5;Q9Y2M2	.;CC032_HUMAN	I	98;98;98;120;120	ENSP00000339150:S98I;ENSP00000324551:S98I;ENSP00000410757:S98I;ENSP00000439378:S120I;ENSP00000401289:S120I	ENSP00000324551:S98I	S	-	2	0	C3orf32	8648776	0.881000	0.30235	0.961000	0.40146	0.964000	0.63967	1.321000	0.33678	2.414000	0.81942	0.467000	0.42956	AGT		0.423	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		46	51	1	0	6.176e-18	1	6.65655e-18	46	51				
DYNC1H1	1778	broad.mit.edu	37	14	102516411	102516411	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:102516411T>G	ENST00000360184.4	+	77	13852	c.13688T>G	c.(13687-13689)tTg>tGg	p.L4563W	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4563					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCACAGGTTTGAAACTTCAA	0.587																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(13687-13689)tTg>tGg		dynein, cytoplasmic 1, heavy chain 1							73.0	69.0	70.0					14																	102516411		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102516411T>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13688T>G	14.37:g.102516411T>G	ENSP00000348965:p.Leu4563Trp		Somatic				RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.L4563W	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			77	13852	+			4563					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13688T>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574890	0.86542	.	.	ENSG00000197102	ENST00000360184	T	0.15372	2.43	5.42	5.42	0.78866	Dynein heavy chain (1);	0.000000	0.64402	D	0.000003	T	0.51295	0.1666	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63422	-0.6641	10	0.87932	D	0	.	15.4559	0.75314	0.0:0.0:0.0:1.0	.	4563	Q14204	DYHC1_HUMAN	W	4563	ENSP00000348965:L4563W	ENSP00000348965:L4563W	L	+	2	0	DYNC1H1	101586164	1.000000	0.71417	0.875000	0.34327	0.779000	0.44077	7.817000	0.86213	2.063000	0.61619	0.402000	0.26972	TTG		0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		110	170	0	0	0	1	0	110	170				
TMEM184C	55751	broad.mit.edu	37	4	148555434	148555434	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:148555434C>T	ENST00000296582.3	+	10	1740	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	389						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						ATTGCTTCTTCTATGCCACCT	0.418																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1165-1167)tCt>tTt		transmembrane protein 184C							109.0	98.0	102.0					4																	148555434		2203	4300	6503	SO:0001583	missense	55751					integral to membrane		g.chr4:148555434C>T	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1166C>T	4.37:g.148555434C>T	ENSP00000296582:p.Ser389Phe		Somatic				TMEM184C_ENST00000508208.1_Intron	p.S389F	NM_018241.2	NP_060711.2	WXS	Illumina GAIIx	Phase_I	Q9NVA4	T184C_HUMAN			10	1740	+			389					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.1166C>T	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799512	0.70567	.	.	ENSG00000164168	ENST00000296582	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	L	0.45581	1.43	0.80722	D	1	B	0.24533	0.105	B	0.19666	0.026	T	0.55976	-0.8055	9	0.52906	T	0.07	-27.8557	20.1253	0.97977	0.0:1.0:0.0:0.0	.	389	Q9NVA4	T184C_HUMAN	F	389	.	ENSP00000296582:S389F	S	+	2	0	TMEM184C	148774884	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	4.624000	0.61254	2.832000	0.97577	0.655000	0.94253	TCT		0.418	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		45	332	0	0	0	1	0	45	332				
ERBB4	2066	broad.mit.edu	37	2	212530141	212530141	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:212530141C>A	ENST00000342788.4	-	15	2088	c.1778G>T	c.(1777-1779)tGt>tTt	p.C593F	ERBB4_ENST00000402597.1_Missense_Mutation_p.C593F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C593F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	593	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCCATCTGGACATTTTTCCAC	0.428										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(1777-1779)tGt>tTt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							129.0	117.0	121.0					2																	212530141		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530141C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1778G>T	2.37:g.212530141C>A	ENSP00000342235:p.Cys593Phe	TSP Lung(8;0.080)	Somatic				ERBB4_ENST00000402597.1_Missense_Mutation_p.C593F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C593F	p.C593F	NM_005235.2	NP_005226.1	WXS	Illumina GAIIx	Phase_I	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	2088	-		Renal(323;0.06)|Lung NSC(271;0.197)	593			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1778G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.486145|4.486145	0.84854|0.84854	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.66460|.	-0.21;-0.21;-0.21|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90665|0.90665	0.7072|0.7072	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.998;1.0;1.0;0.998;0.996|.	D;D;D;D;D|.	0.91635|.	0.976;0.999;0.994;0.981;0.957|.	D|D	0.93918|0.93918	0.7203|0.7203	9|5	.|.	.|.	.|.	.|.	19.2295|19.2295	0.93833|0.93833	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	593;593;452;593;593|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	F|F	593|593	ENSP00000342235:C593F;ENSP00000403204:C593F;ENSP00000385565:C593F|.	.|.	C|V	-|-	2|1	0|0	ERBB4|ERBB4	212238386|212238386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.770000|7.770000	0.85390|0.85390	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.428	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		32	155	1	0	8.4185e-14	1	8.91932e-14	32	155				
ARID4A	5926	broad.mit.edu	37	14	58814442	58814442	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:58814442T>A	ENST00000355431.3	+	15	1623	c.1250T>A	c.(1249-1251)gTa>gAa	p.V417E	ARID4A_ENST00000348476.3_Missense_Mutation_p.V417E|ARID4A_ENST00000395168.3_Missense_Mutation_p.V417E|ARID4A_ENST00000431317.2_Missense_Mutation_p.V417E	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	417					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAACCAAAAGTAAAAGAGGAA	0.348																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1249-1251)gTa>gAa		AT rich interactive domain 4A (RBP1-like)							62.0	66.0	64.0					14																	58814442		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58814442T>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1250T>A	14.37:g.58814442T>A	ENSP00000347602:p.Val417Glu		Somatic				ARID4A_ENST00000431317.2_Missense_Mutation_p.V417E|ARID4A_ENST00000395168.3_Missense_Mutation_p.V417E|ARID4A_ENST00000348476.3_Missense_Mutation_p.V417E	p.V417E	NM_002892.3	NP_002883.3	WXS	Illumina GAIIx	Phase_I	P29374	ARI4A_HUMAN			15	1623	+			417					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.1250T>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.614979	0.66672	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.40756	1.02;2.51;2.51;2.51;2.42	5.54	5.54	0.83059	ARID/BRIGHT DNA-binding domain (1);	0.401538	0.27901	N	0.017397	T	0.46983	0.1421	L	0.32530	0.975	0.44908	D	0.997924	D;D;D	0.71674	0.998;0.991;0.989	D;P;P	0.63703	0.917;0.732;0.86	T	0.33445	-0.9868	10	0.24483	T	0.36	-21.0522	10.0847	0.42410	0.0:0.0748:0.0:0.9252	.	417;417;417	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	E	417;417;417;417;95	ENSP00000347602:V417E;ENSP00000344556:V417E;ENSP00000378597:V417E;ENSP00000397368:V417E;ENSP00000416053:V95E	ENSP00000344556:V417E	V	+	2	0	ARID4A	57884195	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.816000	0.55658	2.100000	0.63781	0.528000	0.53228	GTA		0.348	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		5	79	0	0	0	1	0	5	79				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					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)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly		Somatic				ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron	p.E557G			WXS	Illumina GAIIx	Phase_I	Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		3	180	0	0	0	1	0	3	180				
KLF17	128209	broad.mit.edu	37	1	44596402	44596402	+	Missense_Mutation	SNP	G	G	T	rs540269615		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:44596402G>T	ENST00000372299.3	+	3	1202	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y		NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	382					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGAGAGCAGGACAGTCCTCC	0.502																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(1144-1146)Gac>Tac		Kruppel-like factor 17							101.0	78.0	86.0					1																	44596402		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44596402G>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.1144G>T	1.37:g.44596402G>T	ENSP00000361373:p.Asp382Tyr		Somatic					p.D382Y	NM_173484.3	NP_775755.3	WXS	Illumina GAIIx	Phase_I	Q5JT82	KLF17_HUMAN			3	1202	+	Acute lymphoblastic leukemia(166;0.155)		382					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.1144G>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202456	0.38905	.	.	ENSG00000171872	ENST00000372299	T	0.10288	2.89	4.47	1.44	0.22558	.	1.085760	0.07262	N	0.867668	T	0.12987	0.0315	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.56865	0.808	T	0.38520	-0.9657	10	0.49607	T	0.09	.	7.7948	0.29141	0.0:0.3414:0.4822:0.1763	.	382	Q5JT82	KLF17_HUMAN	Y	382	ENSP00000361373:D382Y	ENSP00000361373:D382Y	D	+	1	0	KLF17	44368989	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.191000	0.17076	0.342000	0.23796	0.561000	0.74099	GAC		0.502	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		55	78	1	0	2.31391e-43	1	2.52304e-43	55	78				
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A	rs577866623		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000302124.2																			15	Substitution - coding silent(15)	p.A270A(15)	endometrium(15)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(808-810)gcG>gcA		olfactory receptor, family 8, subfamily I, member 2							87.0	85.0	86.0					11																	55861593		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861593G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.810G>A	11.37:g.55861593G>A			Somatic				OR8I2_ENST00000560768.1_3'UTR	p.A270A			WXS	Illumina GAIIx	Phase_I	Q8N0Y5	OR8I2_HUMAN			1	841	+	Esophageal squamous(21;0.00693)		270					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.810G>A	CCDS31517.1																																																																																				0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		3	139	0	0	0	1	0	3	139				
TWISTNB	221830	broad.mit.edu	37	7	19738038	19738038	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:19738038A>T	ENST00000222567.5	-	4	988	c.918T>A	c.(916-918)caT>caA	p.H306Q		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	306	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTTTCTTTTTATGGTCACTTT	0.393																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(916-918)caT>caA		TWIST neighbor							124.0	139.0	134.0					7																	19738038		2201	4297	6498	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738038A>T	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.918T>A	7.37:g.19738038A>T	ENSP00000222567:p.His306Gln		Somatic					p.H306Q	NM_001002926.1	NP_001002926.1	WXS	Illumina GAIIx	Phase_I	Q3B726	RPA43_HUMAN			4	988	-			306			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.918T>A	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584919	0.65992	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.84	-0.421	0.12332	.	0.238538	0.49305	D	0.000152	T	0.32346	0.0826	L	0.60455	1.87	0.23708	N	0.997055	P	0.34462	0.454	B	0.35240	0.198	T	0.16512	-1.0400	9	0.25106	T	0.35	-8.0833	6.9003	0.24279	0.4303:0.0:0.4462:0.1235	.	306	Q3B726	RPA43_HUMAN	Q	306	.	ENSP00000222567:H306Q	H	-	3	2	TWISTNB	19704563	0.982000	0.34865	0.999000	0.59377	0.996000	0.88848	0.304000	0.19228	0.125000	0.18397	0.397000	0.26171	CAT		0.393	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			12	248	0	0	0	1	0	12	248				
MUC16	94025	broad.mit.edu	37	19	9085463	9085463	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:9085463C>T	ENST00000397910.4	-	1	6555	c.6352G>A	c.(6352-6354)Gcg>Acg	p.A2118T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTACTCGCGGCTGTATTC	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6352-6354)Gcg>Acg		mucin 16, cell surface associated							130.0	127.0	128.0					19																	9085463		1925	4126	6051	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085463C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6352G>A	19.37:g.9085463C>T	ENSP00000381008:p.Ala2118Thr		Somatic					p.A2118T	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	6555	-			2118			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6352G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.540505	0.27563	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	0.235	0.15431	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.10296	0.003	B	0.06405	0.002	T	0.44065	-0.9352	7	0.87932	D	0	.	.	.	.	.	2118	B5ME49	.	T	2118	ENSP00000381008:A2118T	ENSP00000381008:A2118T	A	-	1	0	MUC16	8946463	0.005000	0.15991	0.009000	0.14445	0.009000	0.06853	-0.509000	0.06336	-0.656000	0.05380	-0.647000	0.03941	GCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	546	0	0	0	1	0	5	546				
SLC17A6	57084	broad.mit.edu	37	11	22364829	22364829	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:22364829A>C	ENST00000263160.3	+	3	813	c.376A>C	c.(376-378)Atg>Ctg	p.M126L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	126					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AACCGTGGGGATGATCCACGG	0.532																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(376-378)Atg>Ctg		solute carrier family 17 (vesicular glutamate transporter), member 6							96.0	104.0	101.0					11																	22364829		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22364829A>C	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.376A>C	11.37:g.22364829A>C	ENSP00000263160:p.Met126Leu		Somatic					p.M126L	NM_020346.2	NP_065079.1	WXS	Illumina GAIIx	Phase_I	Q9P2U8	VGLU2_HUMAN			3	813	+			126					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.376A>C	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	A	6.138	0.393638	0.11638	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.49720	0.77	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.164801	0.64402	D	0.000005	T	0.20455	0.0492	N	0.02169	-0.655	0.47476	D	0.999439	B	0.02656	0.0	B	0.06405	0.002	T	0.22906	-1.0203	10	0.02654	T	1	.	15.4324	0.75112	1.0:0.0:0.0:0.0	.	126	Q9P2U8	VGLU2_HUMAN	L	126;14	ENSP00000263160:M126L	ENSP00000263160:M126L	M	+	1	0	SLC17A6	22321405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.132000	0.50523	2.036000	0.60181	0.533000	0.62120	ATG		0.532	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		31	74	0	0	0	1	0	31	74				
MEGF8	1954	broad.mit.edu	37	19	42848626	42848626	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42848626C>A	ENST00000251268.6	+	11	1822	c.1822C>A	c.(1822-1824)Ctc>Atc	p.L608I	MEGF8_ENST00000334370.4_Missense_Mutation_p.L608I	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	608	PSI 1.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGGGCCGCCTCCTGGGTGA	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1822-1824)Ctc>Atc		multiple EGF-like-domains 8							25.0	30.0	28.0					19																	42848626		2201	4296	6497	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848626C>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1822C>A	19.37:g.42848626C>A	ENSP00000251268:p.Leu608Ile		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.L608I	p.L608I	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			11	2457	+		Prostate(69;0.00682)	608			PSI 1.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.1822C>A		.	.	.	.	.	.	.	.	.	.	C	15.56	2.871153	0.51695	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.05;2.05	4.85	4.85	0.62838	.	0.286088	0.27792	N	0.017830	T	0.14013	0.0339	N	0.14661	0.345	0.80722	D	1	P;P	0.46512	0.826;0.879	B;B	0.40825	0.341;0.222	T	0.08249	-1.0731	10	0.30078	T	0.28	.	15.4477	0.75243	0.0:1.0:0.0:0.0	.	608;608	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	I	608	ENSP00000334219:L608I;ENSP00000251268:L608I	ENSP00000251268:L608I	L	+	1	0	MEGF8	47540466	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	5.239000	0.65371	2.251000	0.74343	0.306000	0.20318	CTC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		18	22	1	0	1.80694e-10	1	1.90365e-10	18	22				
MASP1	5648	broad.mit.edu	37	3	186937924	186937924	+	Missense_Mutation	SNP	C	C	T	rs3774266	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:186937924C>T	ENST00000337774.5	-	16	2424	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	679	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> R (in dbSNP:rs3774266).		complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAGTATACTCCGTAGCGGTCC	0.572											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	4	0.000798722	0.0	0.0	5008	,	,		18328	0.004		0.0	False		,,,				2504	0.0					ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(2035-2037)Gga>Aga		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							147.0	129.0	135.0					3																	186937924		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186937924C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.2035G>A	3.37:g.186937924C>T	ENSP00000336792:p.Gly679Arg		Somatic	OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2011		p.G679R	NM_001879.5	NP_001870.3	WXS	Illumina GAIIx	Phase_I	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	16	2424	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		679		G -> R (in dbSNP:rs3774266).	Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.2035G>A	CCDS33907.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	26.5	4.746720	0.89663	.	.	ENSG00000127241	ENST00000337774	D	0.91180	-2.8	6.13	6.13	0.99165	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.96352	0.8810	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95876	0.8895	9	0.87932	D	0	.	18.334	0.90280	0.0:1.0:0.0:0.0	rs3774266;rs52802142;rs3774266	679	P48740	MASP1_HUMAN	R	679	ENSP00000336792:G679R	ENSP00000336792:G679R	G	-	1	0	MASP1	188420618	1.000000	0.71417	0.936000	0.37596	0.867000	0.49689	5.560000	0.67332	2.932000	0.99384	0.644000	0.83932	GGA		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		16	352	0	0	0	1	0	16	352				
MTMR3	8897	broad.mit.edu	37	22	30408355	30408355	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:30408355A>T	ENST00000401950.2	+	13	1463		c.e13-1		CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Splice_Site|MTMR3_ENST00000323630.5_Splice_Site|MTMR3_ENST00000333027.3_Splice_Site|MTMR3_ENST00000406629.1_Splice_Site	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3						peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGTTTTTATAGTTGGCTATC	0.388																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.e13-1		myotubularin related protein 3							90.0	92.0	91.0					22																	30408355		2203	4300	6503	SO:0001630	splice_region_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30408355A>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1122-1A>T	22.37:g.30408355A>T			Somatic				CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Splice_Site|MTMR3_ENST00000406629.1_Splice_Site|MTMR3_ENST00000401950.2_Splice_Site|MTMR3_ENST00000351488.3_Splice_Site		NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		13	1449	+								A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Splice_Site	SNP	ENST00000401950.2	37		CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420933	0.83559	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4005	0.74838	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTMR3	28738355	1.000000	0.71417	0.964000	0.40570	0.948000	0.59901	8.962000	0.93254	2.234000	0.73211	0.528000	0.53228	.		0.388	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	Intron	5	183	0	0	0	1	0	5	183				
OR9A2	135924	broad.mit.edu	37	7	142724119	142724119	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:142724119T>A	ENST00000350513.2	-	1	163	c.101A>T	c.(100-102)tAt>tTt	p.Y34F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TGTCACTAAATAGAAGAAAAA	0.443																																						ENST00000350513.2																			0				central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(100-102)tAt>tTt		olfactory receptor, family 9, subfamily A, member 2							93.0	95.0	95.0					7																	142724119		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142724119T>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.101A>T	7.37:g.142724119T>A	ENSP00000316518:p.Tyr34Phe		Somatic					p.Y34F	NM_001001658.1	NP_001001658.1	WXS	Illumina GAIIx	Phase_I	Q8NGT5	OR9A2_HUMAN			1	163	-	Melanoma(164;0.059)		34					B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.101A>T	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	T	6.196	0.404248	0.11754	.	.	ENSG00000179468	ENST00000350513	T	0.04406	3.63	4.02	1.38	0.22167	.	0.298679	0.18263	U	0.146580	T	0.05823	0.0152	M	0.64676	1.99	0.25115	N	0.990683	B	0.19200	0.034	B	0.18561	0.022	T	0.27226	-1.0080	10	0.87932	D	0	-25.2806	4.597	0.12334	0.1708:0.1035:0.0:0.7258	.	34	Q8NGT5	OR9A2_HUMAN	F	34	ENSP00000316518:Y34F	ENSP00000316518:Y34F	Y	-	2	0	OR9A2	142434241	0.991000	0.36638	0.041000	0.18516	0.020000	0.10135	2.304000	0.43655	0.688000	0.31529	-0.451000	0.05528	TAT		0.443	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			6	337	0	0	0	1	0	6	337				
SAMSN1	64092	broad.mit.edu	37	21	15872904	15872904	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:15872904A>T	ENST00000400566.1	-	6	795	c.714T>A	c.(712-714)agT>agA	p.S238R	SAMSN1_ENST00000285670.2_Missense_Mutation_p.S306R|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.S70R	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	238					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTGCTGTTACTCCTTCGGT	0.408																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(916-918)agT>agA		SAM domain, SH3 domain and nuclear localization signals 1							142.0	130.0	133.0					21																	15872904		1838	4081	5919	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15872904A>T	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.714T>A	21.37:g.15872904A>T	ENSP00000383411:p.Ser238Arg		Somatic				SAMSN1_ENST00000400564.1_Missense_Mutation_p.S70R|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400566.1_Missense_Mutation_p.S238R	p.S306R	NM_001256370.1	NP_001243299.1	WXS	Illumina GAIIx	Phase_I	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	7	1092	-			238					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.918T>A	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	A	7.851	0.724080	0.15439	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.82893	-1.66;-1.66;-1.66	5.63	1.91	0.25777	Src homology-3 domain (1);Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.125321	0.64402	N	0.000001	T	0.76407	0.3983	L	0.57536	1.79	0.37993	D	0.933979	B;B;B	0.20671	0.029;0.047;0.024	B;B;B	0.24848	0.035;0.015;0.056	T	0.66626	-0.5876	10	0.35671	T	0.21	-8.3804	6.1748	0.20437	0.6596:0.1255:0.2149:0.0	.	70;306;238	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	R	306;238;70	ENSP00000285670:S306R;ENSP00000383411:S238R;ENSP00000383409:S70R	ENSP00000285670:S306R	S	-	3	2	SAMSN1	14794775	0.995000	0.38212	0.097000	0.21041	0.006000	0.05464	1.349000	0.33998	0.081000	0.16988	-0.274000	0.10170	AGT		0.408	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			4	59	0	0	0	1	0	4	59				
LIPE	3991	broad.mit.edu	37	19	42912198	42912198	+	Missense_Mutation	SNP	C	C	T	rs376903518		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42912198C>T	ENST00000244289.4	-	4	1862	c.1586G>A	c.(1585-1587)cGg>cAg	p.R529Q	LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	529					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGTGATCCGCTCAAACTC	0.602																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1585-1587)cGg>cAg		lipase, hormone-sensitive		C	GLN/ARG	0,4406		0,0,2203	90.0	78.0	82.0		1586	3.6	1.0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	LIPE	NM_005357.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	529/1077	42912198	1,13005	2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912198C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1586G>A	19.37:g.42912198C>T	ENSP00000244289:p.Arg529Gln		Somatic				LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR	p.R529Q	NM_005357.2	NP_005348.2	WXS	Illumina GAIIx	Phase_I	Q05469	LIPS_HUMAN			4	1862	-		Prostate(69;0.00682)	529					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1586G>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606004	0.87157	0.0	1.16E-4	ENSG00000079435	ENST00000244289	T	0.34072	1.38	3.6	3.6	0.41247	Hormone-sensitive lipase, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.55289	0.1911	M	0.61703	1.905	0.50313	D	0.999868	D;D	0.89917	1.0;0.999	D;D	0.80764	0.978;0.994	T	0.58014	-0.7711	10	0.48119	T	0.1	-12.6325	14.5259	0.67887	0.0:1.0:0.0:0.0	.	529;529	A8K8W7;Q05469	.;LIPS_HUMAN	Q	529	ENSP00000244289:R529Q	ENSP00000244289:R529Q	R	-	2	0	LIPE	47604038	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.633000	0.61318	2.036000	0.60181	0.561000	0.74099	CGG		0.602	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		62	199	0	0	0	1	0	62	199				
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|CTC-432M15.3_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.e5-2		Rap guanine nucleotide exchange factor (GEF) 6							97.0	100.0	99.0					5																	130897742		2203	4295	6498	SO:0001630	splice_region_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130897742T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.282-2A>T	5.37:g.130897742T>A			Somatic				FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site		NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	WXS	Illumina GAIIx	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	5	487	-								A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Splice_Site	SNP	ENST00000509018.1	37		CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425029	0.83667	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9416	0.64059	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF6;FNIP1	130925641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.925000	0.70062	2.278000	0.76064	0.533000	0.62120	.		0.284	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	Intron	4	96	0	0	0	1	0	4	96				
FRMPD1	22844	broad.mit.edu	37	9	37708465	37708465	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:37708465A>G	ENST00000539465.1	+	4	922	c.329A>G	c.(328-330)gAc>gGc	p.D110G	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D110G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	110	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTGCTGAAGACCTTTCCTGG	0.453																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(328-330)gAc>gGc		FERM and PDZ domain containing 1							127.0	116.0	119.0					9																	37708465		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37708465A>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.329A>G	9.37:g.37708465A>G	ENSP00000444411:p.Asp110Gly		Somatic				RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D110G	p.D110G			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	4	922	+			110			PDZ.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.329A>G	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646847	0.67358	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.31247	1.5;1.5	5.91	3.51	0.40186	PDZ/DHR/GLGF (4);	0.315671	0.37715	N	0.001980	T	0.29620	0.0739	L	0.31120	0.905	0.80722	D	1	P	0.45715	0.865	P	0.51974	0.686	T	0.04140	-1.0974	10	0.52906	T	0.07	-6.9476	5.6494	0.17608	0.7393:0.1698:0.0909:0.0	.	110	Q5SYB0	FRPD1_HUMAN	G	110	ENSP00000366995:D110G;ENSP00000444411:D110G	ENSP00000366995:D110G	D	+	2	0	FRMPD1	37698465	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	3.176000	0.50863	0.465000	0.27167	-0.321000	0.08615	GAC		0.453	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		43	114	0	0	0	1	0	43	114				
LRP2	4036	broad.mit.edu	37	2	170134463	170134463	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:170134463T>A	ENST00000263816.3	-	13	1851		c.e13-2		LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATAAATAACTACAAAAGAAA	0.363																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.e13-2		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						40.0	43.0	42.0					2																	170134463		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170134463T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1566-2A>T	2.37:g.170134463T>A			Somatic				LRP2_ENST00000443831.1_Intron		NM_004525.2	NP_004516.2	WXS	Illumina GAIIx	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	13	1851	-								O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37		CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160385	0.57368	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1311	0.81442	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169842709	1.000000	0.71417	0.987000	0.45799	0.415000	0.31203	7.916000	0.87491	2.209000	0.71365	0.454000	0.30748	.		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron	4	58	0	0	0	1	0	4	58				
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:133948805A>T	ENST00000370784.4	+	2	521	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000414371.2_Missense_Mutation_p.N75Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343																																						ENST00000414371.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(223-225)Aat>Tat		family with sequence similarity 122C							70.0	70.0	70.0					X																	133948805		2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948805A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.115A>T	X.37:g.133948805A>T	ENSP00000359820:p.Asn39Tyr		Somatic				FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y	p.N75Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			4	396	+	Acute lymphoblastic leukemia(192;0.000127)		39					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.223A>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	3.108	-0.183211	0.06340	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.56103	0.48;0.48;0.48	5.33	1.48	0.22813	.	0.150932	0.64402	D	0.000020	T	0.58793	0.2147	L	0.49778	1.585	0.29605	N	0.847369	D;D;D;D	0.89917	1.0;0.996;0.999;0.999	D;D;D;D	0.76071	0.986;0.952;0.987;0.987	T	0.55010	-0.8207	10	0.66056	D	0.02	-4.9597	4.0562	0.09818	0.6328:0.1757:0.1915:0.0	.	75;39;39;39	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	Y	75;39;39	ENSP00000402477:N75Y;ENSP00000359820:N39Y;ENSP00000359821:N39Y	ENSP00000359820:N39Y	N	+	1	0	FAM122C	133776471	0.994000	0.37717	0.001000	0.08648	0.043000	0.13939	0.822000	0.27352	-0.067000	0.12976	0.466000	0.42574	AAT		0.343	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		12	200	0	0	0	1	0	12	200				
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517																																						ENST00000395511.3																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e7-1		dehydrogenase/reductase (SDR family) member 7B							82.0	81.0	82.0					17																	21094259		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094259A>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.773-1A>T	17.37:g.21094259A>T			Somatic				DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site		NM_015510.4	NP_056325.2	WXS	Illumina GAIIx	Phase_I	Q6IAN0	DRS7B_HUMAN			7	1092	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592061	0.46214	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21034851	1.000000	0.71417	0.745000	0.31077	0.287000	0.27160	8.794000	0.91867	2.224000	0.72417	0.533000	0.62120	.		0.517	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	4	64	0	0	0	1	0	4	64				
IGSF11	152404	broad.mit.edu	37	3	118623533	118623533	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:118623533A>T	ENST00000393775.2	-	6	1121	c.816T>A	c.(814-816)aaT>aaA	p.N272K	IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K|IGSF11_ENST00000354673.2_Missense_Mutation_p.N271K|IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	272					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCCTCTTTATTTTTGCTTC	0.343																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(811-813)aaT>aaA		immunoglobulin superfamily, member 11							94.0	108.0	104.0					3																	118623533		2203	4299	6502	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623533A>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.816T>A	3.37:g.118623533A>T	ENSP00000377370:p.Asn272Lys		Somatic				IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K|IGSF11_ENST00000393775.2_Missense_Mutation_p.N272K	p.N271K	NM_152538.2	NP_689751.2	WXS	Illumina GAIIx	Phase_I	Q5DX21	IGS11_HUMAN			8	1193	-			272					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.813T>A	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	A	5.358	0.251359	0.10130	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.83506	-0.88;-1.11;-1.73;-0.88;-1.66;-1.68	5.28	-2.94	0.05581	.	0.140928	0.64402	D	0.000006	T	0.59729	0.2215	N	0.12182	0.205	0.46774	D	0.999191	B;P;B;B;B	0.35575	0.22;0.51;0.29;0.376;0.376	B;B;B;B;B	0.32864	0.054;0.154;0.154;0.073;0.073	T	0.58825	-0.7568	10	0.02654	T	1	.	13.8086	0.63248	0.3778:0.0:0.6222:0.0	.	244;247;271;248;272	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	K	271;272;248;271;247;244	ENSP00000406092:N271K;ENSP00000377370:N272K;ENSP00000420486:N248K;ENSP00000346700:N271K;ENSP00000401240:N247K;ENSP00000417413:N244K	ENSP00000346700:N271K	N	-	3	2	IGSF11	120106223	1.000000	0.71417	0.966000	0.40874	0.995000	0.86356	2.350000	0.44063	-0.680000	0.05211	-0.250000	0.11733	AAT		0.343	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			4	122	0	0	0	1	0	4	122				
SYCP2L	221711	broad.mit.edu	37	6	10955427	10955427	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:10955427T>A	ENST00000283141.6	+	24	2329	c.2033T>A	c.(2032-2034)aTa>aAa	p.I678K		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	678						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCTTTCTCAATAACAGAAGAA	0.443											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2032-2034)aTa>aAa		synaptonemal complex protein 2-like							133.0	132.0	132.0					6																	10955427		1916	4131	6047	SO:0001583	missense	221711					nucleus		g.chr6:10955427T>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2033T>A	6.37:g.10955427T>A	ENSP00000283141:p.Ile678Lys		Somatic	OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	668		p.I678K	NM_001040274.2	NP_001035364.2	WXS	Illumina GAIIx	Phase_I	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		24	2329	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	678					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.2033T>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389254	0.25118	.	.	ENSG00000153157	ENST00000283141	T	0.18338	2.22	3.79	-0.112	0.13572	.	1.262150	0.05358	N	0.533089	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.17098	0.017	T	0.37820	-0.9689	10	0.07644	T	0.81	-0.4258	2.5491	0.04744	0.1999:0.2298:0.0:0.5703	.	678	Q5T4T6	SYC2L_HUMAN	K	678	ENSP00000283141:I678K	ENSP00000283141:I678K	I	+	2	0	SYCP2L	11063413	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.582000	0.23834	-0.171000	0.10797	0.529000	0.55759	ATA		0.443	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		4	238	0	0	0	1	0	4	238				
MYH11	4629	broad.mit.edu	37	16	15865513	15865513	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:15865513G>A	ENST00000300036.5	-	9	1055	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000576790.2_Missense_Mutation_p.P316S|MYH11_ENST00000452625.2_Missense_Mutation_p.P323S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	316	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGGGATGGGCACAAAGCCA	0.517			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(946-948)Ccc>Tcc		myosin, heavy chain 11, smooth muscle							118.0	97.0	104.0					16																	15865513		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15865513G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.946C>T	16.37:g.15865513G>A	ENSP00000300036:p.Pro316Ser		Somatic				MYH11_ENST00000576790.1_Missense_Mutation_p.P316S|MYH11_ENST00000452625.2_Missense_Mutation_p.P323S|MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000300036.5_Missense_Mutation_p.P316S	p.P316S	NM_022844.2	NP_074035.1	WXS	Illumina GAIIx	Phase_I	P35749	MYH11_HUMAN			9	1052	-			316			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.946C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854428	0.51376	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.148440	0.47852	D	0.000204	T	0.75642	0.3877	N	0.04335	-0.225	0.52501	D	0.999951	B;B;B;B;B;B	0.10296	0.0;0.001;0.001;0.001;0.001;0.003	B;B;B;B;B;B	0.17098	0.007;0.017;0.017;0.017;0.017;0.017	T	0.69774	-0.5054	10	0.30854	T	0.27	.	17.7989	0.88580	0.0:0.0:1.0:0.0	.	323;316;316;323;316;323	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	S	316;316;323;323;323	ENSP00000300036:P316S;ENSP00000345136:P316S;ENSP00000379616:P323S;ENSP00000407821:P323S	ENSP00000300036:P316S	P	-	1	0	MYH11	15773014	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.491000	0.53252	2.538000	0.85594	0.561000	0.74099	CCC		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		5	709	0	0	0	1	0	5	709				
PHLDB2	90102	broad.mit.edu	37	3	111603282	111603282	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:111603282G>A	ENST00000431670.2	+	2	769	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PHLDB2_ENST00000478922.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G147R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G120R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G120R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	120						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCCCTCAGTGGATATCCACT	0.448																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(358-360)Gga>Aga		pleckstrin homology-like domain, family B, member 2							208.0	225.0	219.0					3																	111603282		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603282G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.358G>A	3.37:g.111603282G>A	ENSP00000405405:p.Gly120Arg		Somatic				PHLDB2_ENST00000481953.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G147R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G120R	p.G120R	NM_001134438.1	NP_001127910.1	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			2	769	+			120					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.358G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693273	0.48202	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34667	1.35;1.39;1.36;1.37;1.39;1.36	5.66	4.77	0.60923	.	0.270585	0.37437	N	0.002084	T	0.51873	0.1700	L	0.47716	1.5	0.09310	N	0.999999	D;D;D;D;D	0.89917	0.961;0.959;1.0;0.96;0.992	P;P;D;P;P	0.75484	0.64;0.79;0.986;0.59;0.9	T	0.45600	-0.9250	10	0.54805	T	0.06	.	13.484	0.61355	0.0:0.0:0.843:0.157	.	120;120;120;120;147	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	R	147;147;120;120;120;120;120;120;120	ENSP00000377500:G147R;ENSP00000405405:G120R;ENSP00000405292:G120R;ENSP00000418296:G120R;ENSP00000377502:G120R;ENSP00000418319:G120R	ENSP00000352764:G147R	G	+	1	0	PHLDB2	113085972	0.678000	0.27586	0.026000	0.17262	0.774000	0.43823	5.904000	0.69886	1.501000	0.48654	0.655000	0.94253	GGA		0.448	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		20	771	0	0	0	1	0	20	771				
DCAKD	79877	broad.mit.edu	37	17	43112204	43112204	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:43112204A>G	ENST00000452796.2	-	1	305	c.50T>C	c.(49-51)gTg>gCg	p.V17A	DCAKD_ENST00000342350.5_Missense_Mutation_p.V17A|DCAKD_ENST00000310604.4_Missense_Mutation_p.V17A|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.V17A			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	17	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CACCTGGATCACTGAGCTCTT	0.617																																						ENST00000452796.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(49-51)gTg>gCg		dephospho-CoA kinase domain containing							84.0	67.0	73.0					17																	43112204		2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43112204A>G	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.50T>C	17.37:g.43112204A>G	ENSP00000413483:p.Val17Ala		Somatic				DCAKD_ENST00000342350.5_Missense_Mutation_p.V17A|DCAKD_ENST00000310604.4_Missense_Mutation_p.V17A|DCAKD_ENST00000588499.1_Missense_Mutation_p.V17A|DCAKD_ENST00000588295.1_5'UTR	p.V17A			WXS	Illumina GAIIx	Phase_I	Q8WVC6	DCAKD_HUMAN			1	305	-		Prostate(33;0.155)	17			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.50T>C	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.026011	0.93518	.	.	ENSG00000172992	ENST00000342350;ENST00000452796;ENST00000310604	T;T;T	0.52295	0.79;0.79;0.67	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.78285	2.405	0.80722	D	1	D;P	0.55385	0.971;0.937	P;P	0.57548	0.7;0.823	T	0.67872	-0.5558	10	0.51188	T	0.08	0.5415	14.1135	0.65137	1.0:0.0:0.0:0.0	.	17;17	Q8WVC6-2;Q8WVC6	.;DCAKD_HUMAN	A	17	ENSP00000341504:V17A;ENSP00000413483:V17A;ENSP00000308515:V17A	ENSP00000308515:V17A	V	-	2	0	DCAKD	40467730	1.000000	0.71417	0.767000	0.31495	0.994000	0.84299	8.762000	0.91711	2.070000	0.61991	0.459000	0.35465	GTG		0.617	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		16	93	0	0	0	1	0	16	93				
PFKP	5214	broad.mit.edu	37	10	3151561	3151561	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:3151561A>G	ENST00000381125.4	+	10	1054	c.978A>G	c.(976-978)ggA>ggG	p.G326G	PFKP_ENST00000381075.2_Silent_p.G318G	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	326	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCCGCATGGGAGTGGAGGCAG	0.637																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(952-954)ggA>ggG		phosphofructokinase, platelet							62.0	50.0	54.0					10																	3151561		2203	4299	6502	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3151561A>G	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.978A>G	10.37:g.3151561A>G			Somatic				PFKP_ENST00000381125.4_Silent_p.G326G	p.G318G	NM_001242339.1	NP_001229268.1	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	12	1178	+			326					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.954A>G	CCDS7059.1																																																																																				0.637	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		14	13	0	0	0	1	0	14	13				
SUPT7L	9913	broad.mit.edu	37	2	27878230	27878230	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:27878230A>T	ENST00000337768.5	-	5	1552		c.e5+1		SUPT7L_ENST00000404798.2_Splice_Site|SUPT7L_ENST00000406540.1_Splice_Site|SUPT7L_ENST00000464789.2_Splice_Site|SUPT7L_ENST00000405491.1_Splice_Site	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TATTTGTCTTACTTGAAGCCT	0.453																																						ENST00000337768.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16						c.e5+1		suppressor of Ty 7 (S. cerevisiae)-like							74.0	74.0	74.0					2																	27878230		1901	4126	6027	SO:0001630	splice_region_variant	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27878230A>T	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.982+1T>A	2.37:g.27878230A>T			Somatic				SUPT7L_ENST00000406540.1_Splice_Site|SUPT7L_ENST00000405491.1_Splice_Site|SUPT7L_ENST00000404798.2_Splice_Site|SUPT7L_ENST00000464789.2_Splice_Site		NM_014860.1	NP_055675.1	WXS	Illumina GAIIx	Phase_I	O94864	ST65G_HUMAN			5	1552	-	Acute lymphoblastic leukemia(172;0.155)							B4E3W3|Q6IB21|Q9H2T6	Splice_Site	SNP	ENST00000337768.5	37		CCDS42667.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774474	0.90108	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUPT7L	27731734	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.496000	0.90485	2.315000	0.78130	0.533000	0.62120	.		0.453	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860	Intron	6	197	0	0	0	1	0	6	197				
SCN4A	6329	broad.mit.edu	37	17	62045516	62045516	+	Silent	SNP	G	G	A	rs201411232		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:62045516G>A	ENST00000435607.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000578147.1_Silent_p.Y301Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCATTGCCGTACCACGTGT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20556	0.0		0.001	False		,,,				2504	0.0					ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(901-903)taC>taT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						289.0	283.0	285.0					17																	62045516		2178	4279	6457	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045516G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.903C>T	17.37:g.62045516G>A			Somatic				SCN4A_ENST00000435607.1_Silent_p.Y301Y	p.Y301Y			WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			6	979	-			301					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.903C>T	CCDS45761.1																																																																																				0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		8	1057	0	0	0	1	0	8	1057				
FAM111A	63901	broad.mit.edu	37	11	58919627	58919627	+	Missense_Mutation	SNP	T	T	A	rs371113983		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:58919627T>A	ENST00000528737.1	+	5	3304	c.486T>A	c.(484-486)agT>agA	p.S162R	FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R|FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R|FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R|FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	162					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAAGTAAAAGTAAGCAGAAGG	0.413																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(484-486)agT>agA		family with sequence similarity 111, member A							105.0	102.0	103.0					11																	58919627		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919627T>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.486T>A	11.37:g.58919627T>A	ENSP00000434435:p.Ser162Arg		Somatic				FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R|FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R|FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R|FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R	p.S162R			WXS	Illumina GAIIx	Phase_I	Q96PZ2	F111A_HUMAN			5	3304	+		all_epithelial(135;0.139)	162					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.486T>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365703	0.61513	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000527629;ENST00000533703;ENST00000531147	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.45	-1.68	0.08212	.	0.496080	0.17830	N	0.160566	T	0.52853	0.1760	M	0.66939	2.045	0.09310	N	1	D	0.69078	0.997	D	0.63597	0.916	T	0.44574	-0.9319	10	0.72032	D	0.01	-15.638	1.659	0.02787	0.2664:0.0769:0.2598:0.3968	.	162	Q96PZ2	F111A_HUMAN	R	162	ENSP00000434435:S162R;ENSP00000406683:S162R;ENSP00000355264:S162R;ENSP00000433154:S162R;ENSP00000431631:S162R	ENSP00000355264:S162R	S	+	3	2	FAM111A	58676203	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.133000	0.10451	-0.130000	0.11599	0.455000	0.32223	AGT		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		5	235	0	0	0	1	0	5	235				
CDC42EP3	10602	broad.mit.edu	37	2	37873692	37873692	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:37873692A>T	ENST00000295324.3	-	2	1039	c.39T>A	c.(37-39)aaT>aaA	p.N13K	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	13					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTTTCTTGTTATTGGCTGCTT	0.448																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(37-39)aaT>aaA		CDC42 effector protein (Rho GTPase binding) 3							149.0	158.0	155.0					2																	37873692		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873692A>T	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.39T>A	2.37:g.37873692A>T	ENSP00000295324:p.Asn13Lys		Somatic				AC006369.2_ENST00000419425.1_RNA	p.N13K	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	WXS	Illumina GAIIx	Phase_I	Q9UKI2	BORG2_HUMAN			2	1039	-		all_hematologic(82;0.172)	13					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.39T>A	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503776	0.44558	.	.	ENSG00000163171	ENST00000295324;ENST00000457889;ENST00000453555;ENST00000422687	T	0.30182	1.54	5.91	1.41	0.22369	.	0.140322	0.64402	D	0.000007	T	0.13841	0.0335	N	0.14661	0.345	0.39142	D	0.962061	P	0.37781	0.608	B	0.32864	0.154	T	0.12142	-1.0559	10	0.27082	T	0.32	-32.0066	8.7333	0.34512	0.3633:0.0:0.6367:0.0	.	13	Q9UKI2	BORG2_HUMAN	K	13	ENSP00000295324:N13K	ENSP00000295324:N13K	N	-	3	2	CDC42EP3	37727196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.828000	0.27435	0.582000	0.29556	0.533000	0.62120	AAT		0.448	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		6	191	0	0	0	1	0	6	191				
MUC17	140453	broad.mit.edu	37	7	100683565	100683565	+	Missense_Mutation	SNP	G	G	C	rs146122067		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:100683565G>C	ENST00000306151.4	+	3	8932	c.8868G>C	c.(8866-8868)agG>agC	p.R2956S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2956	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTGACACCAGGACACCTGTCA	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8866-8868)agG>agC		mucin 17, cell surface associated							207.0	214.0	212.0					7																	100683565		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683565G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8868G>C	7.37:g.100683565G>C	ENSP00000302716:p.Arg2956Ser		Somatic					p.R2956S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	8932	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2956			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8868G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.013	-0.687390	0.03328	.	.	ENSG00000169876	ENST00000306151	T	0.01804	4.63	1.22	-0.0184	0.13964	.	.	.	.	.	T	0.00580	0.0019	N	0.01048	-1.04	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45026	-0.9289	9	0.02654	T	1	.	2.7415	0.05255	0.0:0.2801:0.2556:0.4643	.	2956	Q685J3	MUC17_HUMAN	S	2956	ENSP00000302716:R2956S	ENSP00000302716:R2956S	R	+	3	2	MUC17	100470285	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-2.603000	0.00890	-0.536000	0.06298	-2.023000	0.00429	AGG		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	449	0	0	0	1	0	4	449				
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(8560-8562)tTa>tAa		dynein, axonemal, heavy chain 7							251.0	237.0	241.0					2																	196720569		1836	4096	5932	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196720569A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8561T>A	2.37:g.196720569A>T	ENSP00000311273:p.Leu2854*		Somatic					p.L2854*	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			45	8661	-			2854			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.8561T>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	48	14.008433	0.99775	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.31	2.89	0.33648	.	0.640279	0.14533	N	0.313770	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.1499	0.06484	0.3715:0.0:0.1842:0.4443	.	.	.	.	X	2854	.	ENSP00000311273:L2854X	L	-	2	0	DNAH7	196428814	0.005000	0.15991	0.003000	0.11579	0.312000	0.27988	0.845000	0.27668	0.440000	0.26502	0.455000	0.32223	TTA		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	800	0	0	0	1	0	9	800				
NID2	22795	broad.mit.edu	37	14	52472479	52472479	+	Missense_Mutation	SNP	C	C	T	rs201207693		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:52472479C>T	ENST00000216286.5	-	21	4092	c.4093G>A	c.(4093-4095)Gca>Aca	p.A1365T	NID2_ENST00000541773.1_Missense_Mutation_p.A1264T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1365					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTAGACTGCAGTTATCCCG	0.418																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(4093-4095)Gca>Aca		nidogen 2 (osteonidogen)		C	THR/ALA	0,4406		0,0,2203	130.0	115.0	120.0		4093	5.3	1.0	14		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	NID2	NM_007361.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1365/1376	52472479	1,13005	2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52472479C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.4093G>A	14.37:g.52472479C>T	ENSP00000216286:p.Ala1365Thr		Somatic				NID2_ENST00000541773.1_Missense_Mutation_p.A1264T	p.A1365T	NM_007361.3	NP_031387.3	WXS	Illumina GAIIx	Phase_I	Q14112	NID2_HUMAN			21	4092	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1365					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.4093G>A	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.639|9.639	1.138536|1.138536	0.21123|0.21123	0.0|0.0	1.16E-4|1.16E-4	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773|ENST00000556572	D;D|.	0.84146|.	-1.81;-1.68|.	6.17|6.17	5.26|5.26	0.73747|0.73747	Six-bladed beta-propeller, TolB-like (1);|.	0.288540|.	0.39020|.	N|.	0.001488|.	T|T	0.50752|0.50752	0.1634|0.1634	L|L	0.39633|0.39633	1.23|1.23	0.30834|0.30834	N|N	0.736449|0.736449	B;B;B|.	0.30686|.	0.026;0.29;0.001|.	B;B;B|.	0.33196|.	0.016;0.159;0.007|.	T|T	0.53373|0.53373	-0.8448|-0.8448	10|5	0.12430|.	T|.	0.62|.	.|.	17.4035|17.4035	0.87467|0.87467	0.0:0.8754:0.1246:0.0|0.0:0.8754:0.1246:0.0	.|.	959;1264;1365|.	E7EPP3;Q14112-2;Q14112|.	.;.;NID2_HUMAN|.	T|Y	1365;959;1264|633	ENSP00000216286:A1365T;ENSP00000443730:A1264T|.	ENSP00000216286:A1365T|.	A|C	-|-	1|2	0|0	NID2|NID2	51542229|51542229	0.985000|0.985000	0.35326|0.35326	0.974000|0.974000	0.42286|0.42286	0.975000|0.975000	0.68041|0.68041	1.840000|1.840000	0.39230|0.39230	1.565000|1.565000	0.49641|0.49641	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.418	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			45	138	0	0	0	1	0	45	138				
ZBTB10	65986	broad.mit.edu	37	8	81412314	81412314	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:81412314G>A	ENST00000430430.1	+	3	2337	c.1558G>A	c.(1558-1560)Ggt>Agt	p.G520S	ZBTB10_ENST00000379091.4_Missense_Mutation_p.G228S|ZBTB10_ENST00000455036.3_Missense_Mutation_p.G520S|ZBTB10_ENST00000426744.2_Missense_Mutation_p.G520S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAAAATGATGGTTGTAATGT	0.403																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(1558-1560)Ggt>Agt		zinc finger and BTB domain containing 10							100.0	98.0	99.0					8																	81412314		1846	4095	5941	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81412314G>A	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1558G>A	8.37:g.81412314G>A	ENSP00000387462:p.Gly520Ser		Somatic				ZBTB10_ENST00000379091.4_Missense_Mutation_p.G228S|ZBTB10_ENST00000426744.2_Missense_Mutation_p.G520S|ZBTB10_ENST00000455036.3_Missense_Mutation_p.G520S	p.G520S	NM_001277145.1	NP_001264074.1	WXS	Illumina GAIIx	Phase_I	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		3	2337	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		520					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.1558G>A	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509641	0.44660	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.10288	2.96;2.91;2.91;2.89	5.41	5.41	0.78517	.	0.366079	0.28841	N	0.013975	T	0.10337	0.0253	L	0.27053	0.805	0.41498	D	0.988264	B;P;P;P	0.41848	0.201;0.651;0.763;0.554	B;B;B;B	0.39660	0.026;0.162;0.306;0.154	T	0.10382	-1.0632	10	0.42905	T	0.14	.	16.551	0.84473	0.0:0.1303:0.8697:0.0	.	376;520;520;228	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	S	228;520;520;520;348	ENSP00000368384:G228S;ENSP00000387462:G520S;ENSP00000412036:G520S;ENSP00000416134:G520S	ENSP00000368384:G228S	G	+	1	0	ZBTB10	81574869	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.008000	0.49544	2.706000	0.92434	0.650000	0.86243	GGT		0.403	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		22	90	0	0	0	1	0	22	90				
TCERG1	10915	broad.mit.edu	37	5	145849222	145849222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:145849222T>A	ENST00000296702.5	+	7	1352	c.1314T>A	c.(1312-1314)taT>taA	p.Y438*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.Y417*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	438	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACTGAATATAAAACAGCAG	0.403																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1312-1314)taT>taA		transcription elongation regulator 1							127.0	141.0	136.0					5																	145849222		2203	4300	6503	SO:0001587	stop_gained	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145849222T>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1314T>A	5.37:g.145849222T>A	ENSP00000296702:p.Tyr438*		Somatic				TCERG1_ENST00000394421.2_Nonsense_Mutation_p.Y417*	p.Y438*	NM_006706.3	NP_006697.2	WXS	Illumina GAIIx	Phase_I	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1352	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	438			WW 2.		Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	c.1314T>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219008	0.79464	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.71	4.35	0.52113	.	0.062212	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-10.0844	7.832	0.29349	0.0:0.1484:0.0:0.8516	.	.	.	.	X	438;417	.	ENSP00000296702:Y438X	Y	+	3	2	TCERG1	145829415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.014000	0.40951	2.182000	0.69389	0.460000	0.39030	TAT		0.403	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	340	0	0	0	1	0	6	340				
GJD2	57369	broad.mit.edu	37	15	35045023	35045023	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:35045023C>T	ENST00000290374.4	-	2	1098	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	208					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATTTCCAGGGCATTTCGGAAC	0.502																																						ENST00000290374.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(622-624)Gcc>Acc		gap junction protein, delta 2, 36kDa							91.0	90.0	90.0					15																	35045023		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045023C>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.622G>A	15.37:g.35045023C>T	ENSP00000290374:p.Ala208Thr		Somatic					p.A208T	NM_020660.2	NP_065711.1	WXS	Illumina GAIIx	Phase_I	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	1098	-		all_lung(180;9.67e-07)	208					Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.622G>A	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165323	0.57476	.	.	ENSG00000159248	ENST00000290374	D	0.98192	-4.78	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000003	D	0.96046	0.8712	L	0.34521	1.04	0.80722	D	1	P	0.44429	0.835	B	0.38500	0.275	D	0.95412	0.8499	10	0.37606	T	0.19	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	208	Q9UKL4	CXD2_HUMAN	T	208	ENSP00000290374:A208T	ENSP00000290374:A208T	A	-	1	0	GJD2	32832315	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	GCC		0.502	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			30	82	0	0	0	1	0	30	82				
OR4F15	390649	broad.mit.edu	37	15	102358493	102358493	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:102358493A>T	ENST00000332238.4	+	1	128	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGTTGTTCTACTTTGCGAGC	0.423																																						ENST00000332238.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(103-105)tAc>tTc		olfactory receptor, family 4, subfamily F, member 15							228.0	200.0	209.0					15																	102358493		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102358493A>T	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.104A>T	15.37:g.102358493A>T	ENSP00000333184:p.Tyr35Phe		Somatic					p.Y35F	NM_001001674.1	NP_001001674.1	WXS	Illumina GAIIx	Phase_I	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	128	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		35					B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.104A>T	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	11.58	1.681929	0.29872	.	.	ENSG00000182854	ENST00000332238	T	0.04406	3.63	5.43	5.43	0.79202	.	0.119782	0.38111	N	0.001819	T	0.09202	0.0227	M	0.69248	2.105	0.21355	N	0.999719	B	0.31752	0.338	B	0.36030	0.216	T	0.13737	-1.0498	9	.	.	.	.	13.4735	0.61295	1.0:0.0:0.0:0.0	.	35	Q8NGB8	O4F15_HUMAN	F	35	ENSP00000333184:Y35F	.	Y	+	2	0	OR4F15	100176016	0.978000	0.34361	0.057000	0.19452	0.227000	0.25037	3.633000	0.54295	2.277000	0.76020	0.528000	0.53228	TAC		0.423	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		13	869	0	0	0	1	0	13	869				
CERS2	29956	broad.mit.edu	37	1	150940953	150940953	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:150940953A>T	ENST00000271688.6	-	3	595	c.209T>A	c.(208-210)aTa>aAa	p.I70K	CERS2_ENST00000561294.1_Missense_Mutation_p.I70K|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.I70K|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	70					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTTCTCCTTTATGTTCAAGAG	0.557																																						ENST00000271688.6																			0											c.(208-210)aTa>aAa		ceramide synthase 2							73.0	73.0	73.0					1																	150940953		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940953A>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.209T>A	1.37:g.150940953A>T	ENSP00000271688:p.Ile70Lys		Somatic				CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.I70K|CERS2_ENST00000368954.5_Missense_Mutation_p.I70K	p.I70K	NM_181746.3	NP_859530.1	WXS	Illumina GAIIx	Phase_I	Q96G23	CERS2_HUMAN			3	595	-			70					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.209T>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019100	0.75275	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.08	5.08	0.68730	Homeobox (1);Homeodomain-like (1);	0.194566	0.43747	D	0.000527	T	0.38321	0.1036	M	0.82323	2.585	0.50813	D	0.999897	P	0.37781	0.608	P	0.55667	0.781	T	0.28106	-1.0054	10	0.87932	D	0	-4.264	14.7019	0.69162	1.0:0.0:0.0:0.0	.	70	Q96G23	CERS2_HUMAN	K	70;70;90;70;70;70	ENSP00000357950:I70K;ENSP00000271688:I70K;ENSP00000357945:I90K;ENSP00000355020:I70K;ENSP00000393239:I70K;ENSP00000394012:I70K	ENSP00000271688:I70K	I	-	2	0	CERS2	149207577	0.942000	0.31987	0.008000	0.14137	0.802000	0.45316	8.516000	0.90552	2.138000	0.66242	0.533000	0.62120	ATA		0.557	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		5	130	0	0	0	1	0	5	130				
RGS3	5998	broad.mit.edu	37	9	116356377	116356377	+	Intron	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:116356377G>C	ENST00000374140.2	+	23	3289				RGS3_ENST00000462403.1_Missense_Mutation_p.E60Q|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCCTGTCTGAGTCCCAGCC	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(178-180)Gag>Cag		regulator of G-protein signaling 3							71.0	80.0	77.0					9																	116356377		2203	4298	6501	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356377G>C	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-333G>C	9.37:g.116356377G>C			Somatic				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Intron	p.E60Q	NM_144489.2	NP_652760.2	WXS	Illumina GAIIx	Phase_I	P49796	RGS3_HUMAN			1	612	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.178G>C	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872060	0.51695	.	.	ENSG00000138835	ENST00000462403	T	0.61158	0.13	5.42	4.52	0.55395	.	.	.	.	.	T	0.34106	0.0886	N	0.08118	0	0.80722	D	1	B	0.30482	0.281	B	0.24701	0.055	T	0.27739	-1.0065	9	0.87932	D	0	.	8.2015	0.31428	0.0854:0.1569:0.7577:0.0	.	60	Q5VZ06	.	Q	60	ENSP00000436168:E60Q	ENSP00000436168:E60Q	E	+	1	0	RGS3	115396198	0.991000	0.36638	1.000000	0.80357	0.785000	0.44390	2.087000	0.41653	1.263000	0.44181	0.650000	0.86243	GAG		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		11	19	0	0	0	1	0	11	19				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp		Somatic				CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	403	0	0	0	1	0	5	403				
NHS	4810	broad.mit.edu	37	X	17742451	17742451	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:17742451T>C	ENST00000380060.3	+	5	1416	c.1078T>C	c.(1078-1080)Tgc>Cgc	p.C360R	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.C204R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	381					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAGTATACGCTGCTCTCTGGT	0.433																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1078-1080)Tgc>Cgc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							136.0	115.0	122.0					X																	17742451		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17742451T>C		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1078T>C	X.37:g.17742451T>C	ENSP00000369400:p.Cys360Arg		Somatic				NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.C204R	p.C360R	NM_198270.2	NP_938011.1	WXS	Illumina GAIIx	Phase_I	Q6T4R5	NHS_HUMAN			5	1416	+	Hepatocellular(33;0.183)		360					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1078T>C	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644836	0.47258	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.39406	1.08;1.18	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	L	0.31664	0.95	0.80722	D	1	P;D;D;D	0.89917	0.927;1.0;1.0;1.0	P;D;D;D	0.91635	0.82;0.999;0.999;0.998	T	0.35773	-0.9775	10	0.07030	T	0.85	-16.2173	14.8956	0.70642	0.0:0.0:0.0:1.0	.	381;202;204;360	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	R	360;204;202	ENSP00000369400:C360R;ENSP00000381170:C204R	ENSP00000369397:C202R	C	+	1	0	NHS	17652372	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.180000	0.71981	1.968000	0.57251	0.486000	0.48141	TGC		0.433	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		29	456	0	0	0	1	0	29	456				
HEPHL1	341208	broad.mit.edu	37	11	93837804	93837804	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:93837804A>T	ENST00000315765.9	+	16	2801	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	931	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTTTTTGGTATTTAATGAGA	0.373																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2791-2793)gtA>gtT		hephaestin-like 1							144.0	143.0	143.0					11																	93837804		1863	4090	5953	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93837804A>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2793A>T	11.37:g.93837804A>T			Somatic					p.V931V	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			16	2801	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	931			Plastocyanin-like 6.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.2793A>T	CCDS44710.1																																																																																				0.373	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		6	313	0	0	0	1	0	6	313				
SLC9A8	23315	broad.mit.edu	37	20	48467338	48467338	+	Intron	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:48467338A>T	ENST00000361573.2	+	7	576				SLC9A8_ENST00000417961.1_Missense_Mutation_p.I192F|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8						ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTGTGTTTTATTTTACAGGC	0.358																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(574-576)Att>Ttt		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							105.0	96.0	99.0					20																	48467338		2203	4300	6503	SO:0001627	intron_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48467338A>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.535-9A>T	20.37:g.48467338A>T			Somatic				SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron	p.I192F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		7	784	+			178					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.574A>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533412	0.64972	.	.	ENSG00000197818	ENST00000417961	T	0.65178	-0.14	5.4	4.18	0.49190	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63116	-0.6709	6	0.48119	T	0.1	.	5.367	0.16119	0.7133:0.0:0.0861:0.2007	.	.	.	.	F	192	ENSP00000416418:I192F	ENSP00000416418:I192F	I	+	1	0	SLC9A8	47900745	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	0.316000	0.19469	2.158000	0.67659	0.528000	0.53228	ATT		0.358	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	78	0	0	0	1	0	5	78				
ST8SIA1	6489	broad.mit.edu	37	12	22354654	22354654	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:22354654A>T	ENST00000396037.4	-	5	1384	c.903T>A	c.(901-903)aaT>aaA	p.N301K	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.N158K	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	301					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCATGCATATTCACAGAGA	0.527																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(901-903)aaT>aaA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							72.0	72.0	72.0					12																	22354654		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354654A>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.903T>A	12.37:g.22354654A>T	ENSP00000379353:p.Asn301Lys		Somatic				ST8SIA1_ENST00000539510.1_Missense_Mutation_p.N158K	p.N301K	NM_003034.3	NP_003025.1	WXS	Illumina GAIIx	Phase_I	Q92185	SIA8A_HUMAN			5	1384	-			301					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.903T>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426985	0.62733	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	T	0.21734	1.99	5.73	-1.21	0.09524	.	0.230654	0.50627	D	0.000107	T	0.18002	0.0432	L	0.46157	1.445	0.37686	D	0.923674	B;B	0.29301	0.241;0.016	B;B	0.27500	0.08;0.027	T	0.20940	-1.0260	10	0.72032	D	0.01	-10.0115	13.475	0.61303	0.21:0.0:0.79:0.0	.	158;301	G3V1U7;Q92185	.;SIA8A_HUMAN	K	301;158	ENSP00000379353:N301K	ENSP00000379353:N301K	N	-	3	2	ST8SIA1	22245921	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	0.722000	0.25925	-0.041000	0.13558	0.533000	0.62120	AAT		0.527	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		34	58	0	0	0	1	0	34	58				
APH1B	83464	broad.mit.edu	37	15	63579621	63579621	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:63579621A>T	ENST00000261879.5	+	4	425		c.e4-1		APH1B_ENST00000380343.4_Intron	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit						apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTCCTGTTTAGTTTCTGGCT	0.433																																						ENST00000261879.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						c.e4-1		APH1B gamma secretase subunit							280.0	282.0	281.0					15																	63579621		2203	4300	6503	SO:0001630	splice_region_variant	83464				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding	g.chr15:63579621A>T	AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.356-1A>T	15.37:g.63579621A>T			Somatic				APH1B_ENST00000380343.4_Intron		NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	WXS	Illumina GAIIx	Phase_I	Q8WW43	APH1B_HUMAN			4	425	+								A8K589|Q564N3|Q6UWQ1|Q9H0S0	Splice_Site	SNP	ENST00000261879.5	37		CCDS10184.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898197	0.72639	.	.	ENSG00000138613	ENST00000261879	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3516	0.60605	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APH1B	61366674	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.743000	0.91592	2.027000	0.59764	0.383000	0.25322	.		0.433	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301	Intron	5	310	0	0	0	1	0	5	310				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T			Somatic				CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	26	504	0	0	0	1	0	26	504				
MLC1	23209	broad.mit.edu	37	22	50518782	50518782	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:50518782G>T	ENST00000311597.5	-	4	918	c.312C>A	c.(310-312)aaC>aaA	p.N104K	MLC1_ENST00000395876.2_Missense_Mutation_p.N104K|MLC1_ENST00000431262.2_Missense_Mutation_p.N74K|MLC1_ENST00000538737.1_Missense_Mutation_p.N104K|MLC1_ENST00000535444.1_Missense_Mutation_p.N25K|MLC1_ENST00000450140.2_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	104					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCACATTGGCGTTCCTCCTGG	0.587																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(310-312)aaC>aaA		megalencephalic leukoencephalopathy with subcortical cysts 1							63.0	48.0	53.0					22																	50518782		2203	4300	6503	SO:0001583	missense	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50518782G>T	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.312C>A	22.37:g.50518782G>T	ENSP00000310375:p.Asn104Lys		Somatic				MLC1_ENST00000395876.2_Missense_Mutation_p.N104K|MLC1_ENST00000538737.1_Missense_Mutation_p.N104K|MLC1_ENST00000450140.2_Intron|MLC1_ENST00000535444.1_Missense_Mutation_p.N25K|MLC1_ENST00000431262.2_Missense_Mutation_p.N74K	p.N104K	NM_015166.3	NP_055981.1	WXS	Illumina GAIIx	Phase_I	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	4	918	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	104					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.312C>A	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	G	1.372	-0.585944	0.03827	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000442311	D;D;D;D;D;D	0.93426	-2.74;-2.74;-2.74;-2.75;-2.74;-3.22	5.34	-7.47	0.01365	.	0.241155	0.48286	N	0.000191	T	0.79545	0.4464	L	0.27053	0.805	0.09310	N	1	P;P;P	0.44690	0.785;0.673;0.841	B;B;B	0.41466	0.348;0.274;0.358	T	0.81420	-0.0941	10	0.08381	T	0.77	-36.7196	1.4848	0.02444	0.3915:0.0993:0.285:0.2242	.	104;74;104	F5H1B9;B7Z659;Q15049	.;.;MLC1_HUMAN	K	104;104;104;74;25;74	ENSP00000379216:N104K;ENSP00000310375:N104K;ENSP00000445805:N104K;ENSP00000415877:N74K;ENSP00000438910:N25K;ENSP00000401385:N74K	ENSP00000310375:N104K	N	-	3	2	MLC1	48860909	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.923000	0.04000	-1.344000	0.02216	-2.630000	0.00154	AAC		0.587	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		7	4	1	0	0.000274275	1	0.000282586	7	4				
ZNF462	58499	broad.mit.edu	37	9	109746495	109746495	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:109746495C>T	ENST00000277225.5	+	10	7150	c.6861C>T	c.(6859-6861)tgC>tgT	p.C2287C	ZNF462_ENST00000542028.1_Silent_p.C244C|ZNF462_ENST00000441147.2_Silent_p.C1193C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.C2347C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2287					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C2287C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTGAAGTTTGCCGGTCCAAAC	0.423																																						ENST00000277225.5																			1	Substitution - coding silent(1)	p.C2287C(1)	kidney(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6859-6861)tgC>tgT		zinc finger protein 462							101.0	97.0	98.0					9																	109746495		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109746495C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6861C>T	9.37:g.109746495C>T			Somatic				RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Silent_p.C244C|ZNF462_ENST00000441147.2_Silent_p.C1193C|ZNF462_ENST00000457913.1_Silent_p.C2347C	p.C2287C			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			10	7150	+			2287					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6861C>T	CCDS35096.1																																																																																				0.423	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	294	0	0	0	1	0	4	294				
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(91-93)ttA>ttT		olfactory receptor, family 4, subfamily D, member 11							113.0	107.0	109.0					11																	59271141		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271141A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.93A>T	11.37:g.59271141A>T	ENSP00000320077:p.Leu31Phe		Somatic					p.L31F	NM_001004706.1	NP_001004706.1	WXS	Illumina GAIIx	Phase_I	Q8NGI4	OR4DB_HUMAN			1	93	+			31						Missense_Mutation	SNP	ENST00000313253.1	37	c.93A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.463158	0.00171	.	.	ENSG00000176200	ENST00000313253	T	0.00012	9.3	5.45	0.808	0.18719	.	0.176500	0.27147	N	0.020708	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	10	0.02654	T	1	-20.1355	9.01	0.36135	0.1516:0.0:0.6995:0.1488	.	31	Q8NGI4	OR4DB_HUMAN	F	31	ENSP00000320077:L31F	ENSP00000320077:L31F	L	+	3	2	OR4D11	59027717	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.634000	0.05477	0.138000	0.18790	-0.371000	0.07208	TTA		0.448	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		12	217	0	0	0	1	0	12	217				
HEPHL1	341208	broad.mit.edu	37	11	93779079	93779079	+	Silent	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:93779079A>C	ENST00000315765.9	+	2	419	c.411A>C	c.(409-411)tcA>tcC	p.S137S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	137	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACAAAGATTCAGAAGGTAAAT	0.378																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(409-411)tcA>tcC		hephaestin-like 1							64.0	63.0	63.0					11																	93779079		1848	4098	5946	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93779079A>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.411A>C	11.37:g.93779079A>C			Somatic					p.S137S	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			2	419	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	137			Plastocyanin-like 1.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.411A>C	CCDS44710.1																																																																																				0.378	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		41	92	0	0	0	1	0	41	92				
DRP2	1821	broad.mit.edu	37	X	100515603	100515603	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:100515603C>T	ENST00000395209.3	+	24	3394	c.2867C>T	c.(2866-2868)gCc>gTc	p.A956V	DRP2_ENST00000402866.1_Missense_Mutation_p.A956V|DRP2_ENST00000541709.1_Missense_Mutation_p.A878V|DRP2_ENST00000538510.1_Missense_Mutation_p.A956V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	956					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACCCTGCTGGCCTCTTGATGG	0.537																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2866-2868)gCc>gTc		dystrophin related protein 2							220.0	177.0	192.0					X																	100515603		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100515603C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2867C>T	X.37:g.100515603C>T	ENSP00000378635:p.Ala956Val		Somatic				DRP2_ENST00000541709.1_Missense_Mutation_p.A878V|DRP2_ENST00000538510.1_Missense_Mutation_p.A956V|DRP2_ENST00000402866.1_Missense_Mutation_p.A956V	p.A956V	NM_001939.2	NP_001930.2	WXS	Illumina GAIIx	Phase_I	Q13474	DRP2_HUMAN			24	3394	+			956					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2867C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381454	0.82792	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.06608	3.34;3.34;3.28;3.34	5.05	5.05	0.67936	.	0.212364	0.40908	D	0.000995	T	0.06416	0.0165	L	0.33485	1.01	0.36949	D	0.892761	B	0.34103	0.437	B	0.26094	0.066	T	0.26950	-1.0088	10	0.87932	D	0	-10.2957	15.7836	0.78286	0.0:1.0:0.0:0.0	.	956	Q13474	DRP2_HUMAN	V	956;956;878;956	ENSP00000385038:A956V;ENSP00000378635:A956V;ENSP00000444752:A878V;ENSP00000441051:A956V	ENSP00000378635:A956V	A	+	2	0	DRP2	100402259	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.811000	0.47986	2.086000	0.62901	0.436000	0.28706	GCC		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		10	1177	0	0	0	1	0	10	1177				
SRSF11	9295	broad.mit.edu	37	1	70694103	70694103	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:70694103A>T	ENST00000370950.3	+	3	285		c.e3-1		SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000454435.2_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000436161.2_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TTTATTTTTTAGTGATTCGCC	0.343																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.e3-1		serine/arginine-rich splicing factor 11							89.0	83.0	85.0					1																	70694103		2203	4300	6503	SO:0001630	splice_region_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70694103A>T	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.204-1A>T	1.37:g.70694103A>T			Somatic				SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000454435.2_Splice_Site|SRSF11_ENST00000436161.2_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q05519	SRS11_HUMAN			3	285	+								Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37		CCDS647.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765879	0.49574	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000454435;ENST00000395136;ENST00000436161	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3203	0.74117	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF11	70466691	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	9.339000	0.96797	2.040000	0.60383	0.460000	0.39030	.		0.343	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Intron	5	111	0	0	0	1	0	5	111				
REST	5978	broad.mit.edu	37	4	57796304	57796304	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:57796304T>A	ENST00000309042.7	+	4	1594	c.1280T>A	c.(1279-1281)cTa>cAa	p.L427Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	427	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAGTGAAACTAAAGAAAACC	0.348																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1279-1281)cTa>cAa		RE1-silencing transcription factor							76.0	81.0	79.0					4																	57796304		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796304T>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1280T>A	4.37:g.57796304T>A	ENSP00000311816:p.Leu427Gln		Somatic					p.L427Q	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	WXS	Illumina GAIIx	Phase_I	Q13127	REST_HUMAN			4	1594	+	Glioma(25;0.08)|all_neural(26;0.181)		427			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1280T>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805894	0.70682	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.51071	0.72	5.8	5.8	0.92144	.	0.000000	0.50627	D	0.000103	T	0.65112	0.2660	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.67035	-0.5772	10	0.66056	D	0.02	-7.2771	15.8127	0.78576	0.0:0.0:0.0:1.0	.	404;427	F8WAN5;Q13127	.;REST_HUMAN	Q	427;427;404	ENSP00000311816:L427Q	ENSP00000311816:L427Q	L	+	2	0	REST	57491061	1.000000	0.71417	0.813000	0.32504	0.469000	0.32828	7.619000	0.83057	2.222000	0.72286	0.533000	0.62120	CTA		0.348	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		5	113	0	0	0	1	0	5	113				
ACADSB	36	broad.mit.edu	37	10	124799980	124799980	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:124799980A>T	ENST00000358776.4	+	4	317		c.e4-1		ACADSB_ENST00000496730.2_Splice_Site|ACADSB_ENST00000368869.4_Splice_Site	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TTTTTTCTTTAGTTGATGGGT	0.333																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.e4-1		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						60.0	61.0	60.0					10																	124799980		2203	4300	6503	SO:0001630	splice_region_variant	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124799980A>T	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.304-1A>T	10.37:g.124799980A>T			Somatic				ACADSB_ENST00000496730.2_Splice_Site|ACADSB_ENST00000368869.4_Splice_Site		NM_001609.3	NP_001600.1	WXS	Illumina GAIIx	Phase_I	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	4	317	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)						B4DQ51|Q5SQN6|Q96CX7	Splice_Site	SNP	ENST00000358776.4	37		CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	33	5.241082	0.95272	.	.	ENSG00000196177	ENST00000358776;ENST00000411816	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9199	0.79556	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACADSB	124789970	1.000000	0.71417	0.334000	0.25495	0.829000	0.46940	9.101000	0.94219	2.161000	0.67846	0.533000	0.62120	.		0.333	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	Intron	4	35	0	0	0	1	0	4	35				
CLCN6	1185	broad.mit.edu	37	1	11897078	11897078	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:11897078C>A	ENST00000346436.6	+	19	2055	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.A668D|CLCN6_ENST00000376487.3_Missense_Mutation_p.A646D	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	668					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|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;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACCCGGGCTGGCGAGCAG	0.587																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(2002-2004)gCt>gAt		chloride channel, voltage-sensitive 6							61.0	58.0	59.0					1																	11897078		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11897078C>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2003C>A	1.37:g.11897078C>A	ENSP00000234488:p.Ala668Asp		Somatic				CLCN6_ENST00000376496.3_Missense_Mutation_p.A668D|CLCN6_ENST00000376487.3_Missense_Mutation_p.A646D|CLCN6_ENST00000312413.6_3'UTR	p.A668D	NM_001286.3	NP_001277.1	WXS	Illumina GAIIx	Phase_I	P51797	CLCN6_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;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	19	2055	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	668					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.2003C>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039860	0.75732	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.92199	-2.96;-2.95;-2.99	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.92782	0.7705	L	0.47716	1.5	0.80722	D	1	D;D	0.62365	0.991;0.985	P;P	0.57101	0.813;0.655	D	0.89511	0.3771	10	0.12103	T	0.63	-30.2036	18.8259	0.92119	0.0:1.0:0.0:0.0	.	646;668	F8W9R3;P51797	.;CLCN6_HUMAN	D	668;646;668	ENSP00000234488:A668D;ENSP00000365670:A646D;ENSP00000365679:A668D	ENSP00000234488:A668D	A	+	2	0	CLCN6	11819665	1.000000	0.71417	0.195000	0.23364	0.403000	0.30841	7.041000	0.76558	2.711000	0.92665	0.561000	0.74099	GCT		0.587	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		11	175	1	0	0.000673444	1	0.000691945	11	175				
MFSD6	54842	broad.mit.edu	37	2	191362295	191362295	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:191362295T>A	ENST00000392328.1	+	7	2346	c.2022T>A	c.(2020-2022)acT>acA	p.T674T	MFSD6_ENST00000281416.7_Silent_p.T674T|MFSD6_ENST00000535751.1_Silent_p.T136T	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	674					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CCAAGAAAACTAAGCACCAGG	0.493																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(2020-2022)acT>acA		major facilitator superfamily domain containing 6							164.0	139.0	148.0					2																	191362295		2203	4300	6503	SO:0001819	synonymous_variant	54842				transmembrane transport	integral to membrane		g.chr2:191362295T>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.2022T>A	2.37:g.191362295T>A			Somatic				MFSD6_ENST00000535751.1_Silent_p.T136T|MFSD6_ENST00000281416.7_Silent_p.T674T	p.T674T	NM_017694.3	NP_060164.3	WXS	Illumina GAIIx	Phase_I	Q6ZSS7	MFSD6_HUMAN			7	2346	+			674					D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	37	c.2022T>A	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245332	0.22796	.	.	ENSG00000151690	ENST00000434582	.	.	.	5.44	2.66	0.31614	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.936	1.45	0.02372	0.1404:0.4313:0.1361:0.2922	.	.	.	.	K	210	.	.	X	+	1	0	MFSD6	191070540	0.267000	0.24122	1.000000	0.80357	0.971000	0.66376	-0.397000	0.07269	0.368000	0.24481	-0.922000	0.02736	TAA		0.493	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			6	250	0	0	0	1	0	6	250				
KIAA1161	57462	broad.mit.edu	37	9	34371724	34371724	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:34371724C>T	ENST00000297625.7	-	2	1341	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	406					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTCGCGCTCCACGCCCTCGC	0.677																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(1114-1116)gtG>gtA		KIAA1161							24.0	28.0	26.0					9																	34371724		2034	4157	6191	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371724C>T	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1116G>A	9.37:g.34371724C>T			Somatic					p.V372V	NM_020702.3	NP_065753.2	WXS	Illumina GAIIx	Phase_I	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1341	-			406					Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.1116G>A																																																																																					0.677	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		12	22	0	0	0	1	0	12	22				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|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_ENST00000440274.1_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			Somatic				EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	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		4	79	0	0	0	1	0	4	79				
ANKRD42	338699	broad.mit.edu	37	11	82935895	82935895	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:82935895A>T	ENST00000393392.2	+	6	664		c.e6-1		ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000260047.6_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42						positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTCCTCTAGTTCACTTAG	0.333																																						ENST00000260047.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e6-1		ankyrin repeat domain 42							53.0	53.0	53.0					11																	82935895		2203	4300	6503	SO:0001630	splice_region_variant	338699							g.chr11:82935895A>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.503-1A>T	11.37:g.82935895A>T			Somatic				ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site|ANKRD42_ENST00000393392.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8N9B4	ANR42_HUMAN			6	1378	+								Q49A49	Splice_Site	SNP	ENST00000393392.2	37		CCDS8265.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727243	0.69074	.	.	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8967	0.70649	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD42	82613543	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	6.289000	0.72696	2.154000	0.67381	0.533000	0.62120	.		0.333	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603	Intron	7	170	0	0	0	1	0	7	170				
LPA	4018	broad.mit.edu	37	6	161027620	161027620	+	Missense_Mutation	SNP	T	T	C	rs41269892	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:161027620T>C	ENST00000316300.5	-	17	2718	c.2674A>G	c.(2674-2676)Agt>Ggt	p.S892G	LPA_ENST00000447678.1_Missense_Mutation_p.S892G			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3400	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACCTGACACTGGGATCCCTC	0.522													T|||	20	0.00399361	0.0129	0.0029	5008	,	,		15788	0.0		0.0	False		,,,				2504	0.001					ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2674-2676)Agt>Ggt		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)	T	GLY/SER	44,4182		0,44,2069	123.0	128.0	127.0		2674	0.9	0.0	6	dbSNP_127	127	1,8561		0,1,4280	no	missense	LPA	NM_005577.2	56	0,45,6349	CC,CT,TT		0.0117,1.0412,0.3519	benign	892/2041	161027620	45,12743	2113	4281	6394	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027620T>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2674A>G	6.37:g.161027620T>C	ENSP00000321334:p.Ser892Gly		Somatic				LPA_ENST00000316300.5_Missense_Mutation_p.S892G	p.S892G	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2794	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3400			Kringle 8.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2674A>G	CCDS43523.1	209	0.09569597069597069	50	0.1016260162601626	42	0.11602209944751381	55	0.09615384615384616	62	0.08179419525065963	t	0.016	-1.527111	0.00959	0.010412	1.17E-4	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.67171	-0.25;-0.25	2.18	0.869	0.19096	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.40546	0.1121	L	0.33093	0.98	0.09310	N	1	D	0.53885	0.963	P	0.53861	0.736	T	0.20773	-1.0265	9	0.19590	T	0.45	.	4.2453	0.10669	0.3044:0.0:0.0:0.6956	rs41269892	3400	P08519	APOA_HUMAN	G	892	ENSP00000321334:S892G;ENSP00000395608:S892G	ENSP00000321334:S892G	S	-	1	0	LPA	160947610	0.000000	0.05858	0.046000	0.18839	0.109000	0.19521	0.451000	0.21779	0.079000	0.16929	0.155000	0.16302	AGT		0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	541	0	0	0	1	0	5	541				
TCF12	6938	broad.mit.edu	37	15	57355950	57355950	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:57355950A>T	ENST00000267811.5	+	4	455	c.151A>T	c.(151-153)Att>Ttt	p.I51F	TCF12_ENST00000333725.5_Missense_Mutation_p.I51F|TCF12_ENST00000557843.1_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000438423.2_Missense_Mutation_p.I51F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	51					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTTTTTAGGTATTGATGAAAG	0.353			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(151-153)Att>Ttt		transcription factor 12							131.0	131.0	131.0					15																	57355950		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57355950A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.151A>T	15.37:g.57355950A>T	ENSP00000267811:p.Ile51Phe		Somatic				TCF12_ENST00000557843.1_Missense_Mutation_p.I51F|TCF12_ENST00000438423.2_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Missense_Mutation_p.I51F	p.I51F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	WXS	Illumina GAIIx	Phase_I	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	4	455	+		Colorectal(260;0.0907)	51					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.151A>T	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021383	0.54576	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000333725	T;T;T	0.14640	2.49;2.5;2.5	5.8	5.8	0.92144	.	0.129845	0.64402	D	0.000002	T	0.12305	0.0299	L	0.29908	0.895	0.80722	D	1	B;B;B	0.19583	0.018;0.037;0.018	B;B;B	0.16289	0.015;0.004;0.01	T	0.03587	-1.1022	10	0.62326	D	0.03	-0.4423	13.9021	0.63812	1.0:0.0:0.0:0.0	.	103;51;51	F5H6Z6;Q99081;Q99081-3	.;HTF4_HUMAN;.	F	103;51;51;51	ENSP00000267811:I51F;ENSP00000388940:I51F;ENSP00000331057:I51F	ENSP00000267811:I51F	I	+	1	0	TCF12	55143242	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.011000	0.57124	2.213000	0.71641	0.477000	0.44152	ATT		0.353	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		9	266	0	0	0	1	0	9	266				
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	G	T	rs77154254		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:6646512G>T	ENST00000229239.5	+	7	1147	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)	p.A161S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						AGCACCCCTGGCCAAGGTCAT	0.577																																						ENST00000229239.5																			1	Substitution - Missense(1)	p.A161S(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(481-483)Gcc>Tcc		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						59.0	56.0	57.0					12																	6646512		2203	4300	6503	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646512G>T	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.481G>T	12.37:g.6646512G>T	ENSP00000229239:p.Ala161Ser		Somatic				GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S	p.A161S	NM_002046.4	NP_002037.2	WXS	Illumina GAIIx	Phase_I	P04406	G3P_HUMAN			7	1147	+			161					E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.481G>T	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579859	0.86645	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.62	4.62	0.57501	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	H	0.97940	4.11	0.50632	D	0.99988	P;P;B;B;B	0.41524	0.753;0.753;0.159;0.019;0.008	P;P;B;B;B	0.55161	0.77;0.77;0.239;0.329;0.157	D	0.86197	0.1616	10	0.72032	D	0.01	.	17.6697	0.88213	0.0:0.0:1.0:0.0	.	119;136;161;86;161	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	S	161;161;86;161;161;119	ENSP00000229239:A161S;ENSP00000380065:A86S;ENSP00000380070:A161S;ENSP00000380068:A161S;ENSP00000380067:A119S	ENSP00000229239:A161S	A	+	1	0	GAPDH	6516773	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.652000	0.83633	2.403000	0.81681	0.561000	0.74099	GCC		0.577	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		6	68	1	0	1.12685e-05	1	1.16743e-05	6	68				
EXTL2	2135	broad.mit.edu	37	1	101339515	101339515	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:101339515A>T	ENST00000370114.3	-	5	2412	c.976T>A	c.(976-978)Tac>Aac	p.Y326N	EXTL2_ENST00000370113.3_Missense_Mutation_p.Y326N|EXTL2_ENST00000535414.1_Missense_Mutation_p.Y313N	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	326					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTCTTTTGTAGTTGGCATAT	0.313																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(976-978)Tac>Aac		exostosin-like glycosyltransferase 2							54.0	58.0	57.0					1																	101339515		2203	4298	6501	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339515A>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.976T>A	1.37:g.101339515A>T	ENSP00000359132:p.Tyr326Asn		Somatic				EXTL2_ENST00000535414.1_Missense_Mutation_p.Y313N|EXTL2_ENST00000370113.3_Missense_Mutation_p.Y326N	p.Y326N	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	WXS	Illumina GAIIx	Phase_I	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2412	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	326					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.976T>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807541	0.50421	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	D;D;D	0.82433	-1.61;-1.61;-1.61	5.95	5.03	0.67393	.	0.086636	0.85682	D	0.000000	T	0.55893	0.1949	N	0.08118	0	0.39326	D	0.965328	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58864	-0.7561	10	0.59425	D	0.04	-15.2176	14.3835	0.66926	0.072:0.0:0.928:0.0	.	325;326	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	N	326;326;313	ENSP00000359132:Y326N;ENSP00000359131:Y326N;ENSP00000444385:Y313N	ENSP00000359131:Y326N	Y	-	1	0	EXTL2	101112103	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.426000	0.73374	1.501000	0.48654	-0.468000	0.05107	TAC		0.313	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		6	97	0	0	0	1	0	6	97				
ERVW-1	30816	broad.mit.edu	37	7	92098577	92098577	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:92098577G>T	ENST00000493463.2	-	1	2042	c.1119C>A	c.(1117-1119)aaC>aaA	p.N373K	ERVW-1_ENST00000603053.1_Missense_Mutation_p.N373K|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	373					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						ctgctagggagttaagttgat	0.448																																						ENST00000493463.2																			0				endometrium(1)|large_intestine(1)|lung(15)	17						c.(1117-1119)aaC>aaA									26.0	26.0	26.0					7																	92098577		2193	4288	6481	SO:0001583	missense	30816				syncytium formation	integral to membrane|plasma membrane|virion		g.chr7:92098577G>T	AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1119C>A	7.37:g.92098577G>T	ENSP00000419945:p.Asn373Lys		Somatic				ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.N373K|AC007566.10_ENST00000427458.1_RNA	p.N373K	NM_014590.3	NP_055405.3	WXS	Illumina GAIIx	Phase_I	Q9UQF0	ENW1_HUMAN			1	2042	-			373					B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	ENST00000493463.2	37	c.1119C>A	CCDS5626.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369430	0.42003	.	.	ENSG00000242950	ENST00000493463	T	0.30448	1.53	0.0465	0.0465	0.14256	.	0.983709	0.08209	U	0.981110	T	0.28532	0.0706	L	0.39898	1.24	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38950	-0.9637	7	0.72032	D	0.01	.	.	.	.	.	.	.	.	K	373	ENSP00000419945:N373K	ENSP00000419945:N373K	N	-	3	2	ERVW-1	91936513	0.691000	0.27709	0.488000	0.27440	0.491000	0.33493	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	AAC		0.448	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254009.2	NM_014590		22	67	1	0	3.8784e-16	1	4.15623e-16	22	67				
FAM120B	84498	broad.mit.edu	37	6	170627090	170627090	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:170627090C>T	ENST00000476287.1	+	2	720	c.612C>T	c.(610-612)gtC>gtT	p.V204V	FAM120B_ENST00000537664.1_Silent_p.V227V|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Silent_p.V216V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	204					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGGACACCGTCATGCTCTGCA	0.532																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(610-612)gtC>gtT		family with sequence similarity 120B							74.0	77.0	76.0					6																	170627090		2203	4300	6503	SO:0001819	synonymous_variant	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627090C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.612C>T	6.37:g.170627090C>T			Somatic				FAM120B_ENST00000537664.1_Silent_p.V227V|FAM120B_ENST00000540480.1_Silent_p.V216V|FAM120B_ENST00000252510.9_Intron	p.V204V	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	720	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	204					B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	c.612C>T	CCDS5314.1																																																																																				0.532	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		34	80	0	0	0	1	0	34	80				
ESRRB	2103	broad.mit.edu	37	14	76906069	76906069	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:76906069G>T	ENST00000509242.1	+	3	471	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S	ESRRB_ENST00000380887.2_Missense_Mutation_p.A125S|ESRRB_ENST00000556177.1_Missense_Mutation_p.A125S|ESRRB_ENST00000261532.7_Missense_Mutation_p.A125S|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	125					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GGCTTGCAAGGCCTTCTTCAA	0.652																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(373-375)Gcc>Tcc		estrogen-related receptor beta							47.0	44.0	45.0					14																	76906069		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76906069G>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.373G>T	14.37:g.76906069G>T	ENSP00000422488:p.Ala125Ser		Somatic				ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.A125S|ESRRB_ENST00000509242.1_Missense_Mutation_p.A125S|ESRRB_ENST00000556177.1_Missense_Mutation_p.A125S	p.A125S			WXS	Illumina GAIIx	Phase_I	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	445	+			125					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.373G>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951998	0.92660	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	D	0.99087	1.0839	10	0.72032	D	0.01	.	18.2541	0.90014	0.0:0.0:1.0:0.0	.	125;130	Q5F0P7;E7EWD9	.;.	S	130;125;125;125;125	ENSP00000424992:A130S;ENSP00000422488:A125S;ENSP00000451658:A125S;ENSP00000370270:A125S;ENSP00000261532:A125S	ENSP00000261532:A125S	A	+	1	0	ESRRB	75975822	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.818000	0.99354	2.307000	0.77673	0.561000	0.74099	GCC		0.652	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			9	142	1	0	1.12685e-05	1	1.16743e-05	9	142				
CFAP70	118491	broad.mit.edu	37	10	75037003	75037003	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:75037003C>G	ENST00000310715.3	-	22	2845	c.2725G>C	c.(2725-2727)Gtg>Ctg	p.V909L	DNAJC9-AS1_ENST00000440197.2_RNA|RNU6-833P_ENST00000363486.1_RNA|TTC18_ENST00000401621.2_Missense_Mutation_p.V909L|TTC18_ENST00000355577.3_Missense_Mutation_p.V378L|TTC18_ENST00000394865.1_Missense_Mutation_p.V909L|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		909						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGACCTGCACAGCCTTGACT	0.393																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2725-2727)Gtg>Ctg		tetratricopeptide repeat domain 18							124.0	119.0	121.0					10																	75037003		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75037003C>G																												ENST00000310715.3:c.2725G>C	10.37:g.75037003C>G	ENSP00000310829:p.Val909Leu		Somatic				TTC18_ENST00000401621.2_Missense_Mutation_p.V909L|TTC18_ENST00000394865.1_Missense_Mutation_p.V909L|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.V378L|TTC18_ENST00000340329.3_Intron	p.V909L	NM_145170.3	NP_660153.3	WXS	Illumina GAIIx	Phase_I	Q5T0N1	TTC18_HUMAN			22	2845	-	Prostate(51;0.0119)		909					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2725G>C	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412021	0.25465	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.29917	1.94;1.94;1.56;1.55	5.77	4.86	0.63082	.	0.188298	0.38837	N	0.001553	T	0.20536	0.0494	L	0.38838	1.175	0.31938	N	0.611326	B	0.18461	0.028	B	0.14023	0.01	T	0.12811	-1.0533	10	0.07175	T	0.84	-14.5753	11.1054	0.48199	0.0:0.9133:0.0:0.0867	.	909	Q5T0N1	TTC18_HUMAN	L	909;909;909;316;909	ENSP00000310829:V909L;ENSP00000384479:V909L;ENSP00000409527:V316L;ENSP00000378334:V909L	ENSP00000310829:V909L	V	-	1	0	TTC18	74707009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.177000	0.31969	2.723000	0.93209	0.655000	0.94253	GTG		0.393	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	121	0	0	0	1	0	3	121				
SLC4A7	9497	broad.mit.edu	37	3	27427425	27427425	+	Missense_Mutation	SNP	A	A	T	rs201832393		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:27427425A>T	ENST00000295736.5	-	23	3493	c.3423T>A	c.(3421-3423)agT>agA	p.S1141R	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S1150R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S1133R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S1026R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S1017R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S691R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1141					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	tctttttcttactttctGGCA	0.323																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3421-3423)agT>agA		solute carrier family 4, sodium bicarbonate cotransporter, member 7							84.0	92.0	89.0					3																	27427425		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27427425A>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3423T>A	3.37:g.27427425A>T	ENSP00000295736:p.Ser1141Arg		Somatic				SLC4A7_ENST00000388777.4_Missense_Mutation_p.S691R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S1150R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S1026R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S1017R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S1133R	p.S1141R	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			23	3493	-			1141					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3423T>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462069	0.84425	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.80824	-1.42;-1.1;-1.13;-1.11;-1.19;-1.13;-1.18;-1.14;-1.18;-1.14;-1.42;-1.11	5.53	5.53	0.82687	.	0.038500	0.85682	D	0.000000	D	0.83885	0.5351	L	0.33339	1.005	0.80722	D	1	D;P;D;D;D;B;P;D;P	0.69078	0.992;0.914;0.992;0.997;0.984;0.339;0.949;0.992;0.843	D;P;D;D;P;B;P;D;P	0.68943	0.954;0.71;0.954;0.961;0.899;0.25;0.848;0.954;0.655	D	0.83533	0.0092	10	0.38643	T	0.18	.	15.9523	0.79850	1.0:0.0:0.0:0.0	.	1137;1022;1133;1137;1150;691;1017;1141;1022	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	R	692;1141;1017;1150;1137;1022;1133;1022;1137;1026;691;1037	ENSP00000411031:S692R;ENSP00000295736:S1141R;ENSP00000416368:S1017R;ENSP00000390394:S1150R;ENSP00000414797:S1137R;ENSP00000394252:S1022R;ENSP00000406605:S1133R;ENSP00000407382:S1022R;ENSP00000406804:S1137R;ENSP00000395336:S1026R;ENSP00000373429:S691R;ENSP00000388703:S1037R	ENSP00000295736:S1141R	S	-	3	2	SLC4A7	27402429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.971000	0.63749	2.226000	0.72624	0.533000	0.62120	AGT		0.323	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		9	80	0	0	0	1	0	9	80				
CNTN1	1272	broad.mit.edu	37	12	41337962	41337962	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:41337962G>T	ENST00000551295.2	+	14	1790	c.1673G>T	c.(1672-1674)aGg>aTg	p.R558M	CNTN1_ENST00000547702.1_Missense_Mutation_p.R558M|CNTN1_ENST00000360099.3_Missense_Mutation_p.R558M|CNTN1_ENST00000547849.1_Missense_Mutation_p.R558M|CNTN1_ENST00000348761.2_Missense_Mutation_p.R547M|CNTN1_ENST00000347616.1_Missense_Mutation_p.R558M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	558	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CACTACCAGAGGAATTTTATG	0.358																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1672-1674)aGg>aTg		contactin 1							82.0	74.0	76.0					12																	41337962		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337962G>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1673G>T	12.37:g.41337962G>T	ENSP00000447006:p.Arg558Met		Somatic				CNTN1_ENST00000547849.1_Missense_Mutation_p.R558M|CNTN1_ENST00000360099.3_Missense_Mutation_p.R558M|CNTN1_ENST00000547702.1_Missense_Mutation_p.R558M|CNTN1_ENST00000348761.2_Missense_Mutation_p.R547M|CNTN1_ENST00000347616.1_Missense_Mutation_p.R558M	p.R558M	NM_001843.3	NP_001834.2	WXS	Illumina GAIIx	Phase_I	Q12860	CNTN1_HUMAN			14	1790	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	558			Ig-like C2-type 6.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1673G>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918946	0.73098	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	5.0	4.1	0.47936	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055206	0.64402	N	0.000001	T	0.58148	0.2102	M	0.82823	2.61	0.46927	D	0.999258	B;D;D	0.89917	0.403;1.0;1.0	P;D;D	0.79108	0.725;0.986;0.992	T	0.65516	-0.6149	10	0.56958	D	0.05	.	15.1443	0.72637	0.0:0.0:0.8575:0.1425	.	558;547;558	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	M	558;558;558;558;558;547	ENSP00000448004:R558M;ENSP00000447006:R558M;ENSP00000448653:R558M;ENSP00000325660:R558M;ENSP00000353213:R558M;ENSP00000261160:R547M	ENSP00000325660:R558M	R	+	2	0	CNTN1	39624229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.685000	0.74543	1.458000	0.47871	0.609000	0.83330	AGG		0.358	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		5	64	1	0	0.014758	1	0.0151219	5	64				
CADPS	8618	broad.mit.edu	37	3	62451127	62451127	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:62451127T>A	ENST00000383710.4	-	26	3902		c.e26-2		CADPS_ENST00000462768.1_Splice_Site|CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000357948.3_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTAACGAACTAGAAAAACAG	0.368																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.e26-2		Ca++-dependent secretion activator							89.0	96.0	94.0					3																	62451127		2203	4300	6503	SO:0001630	splice_region_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62451127T>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3553-2A>T	3.37:g.62451127T>A			Somatic				CADPS_ENST00000357948.3_Splice_Site|CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000462768.1_Splice_Site		NM_003716.3	NP_003707.2	WXS	Illumina GAIIx	Phase_I	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	26	3902	-		Lung SC(41;0.0452)						A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP	ENST00000383710.4	37		CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180240	0.57800	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000473635;ENST00000357948;ENST00000283269;ENST00000466621	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62426167	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.698000	0.84413	2.288000	0.76882	0.482000	0.46254	.		0.368	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	Intron	5	130	0	0	0	1	0	5	130				
ATRNL1	26033	broad.mit.edu	37	10	116925320	116925320	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:116925320A>T	ENST00000355044.3	+	7	1133	c.1007A>T	c.(1006-1008)tAc>tTc	p.Y336F	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	336					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTTTTAGTTACAATTTAGAA	0.338																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1006-1008)tAc>tTc		attractin-like 1							72.0	72.0	72.0					10																	116925320		2203	4298	6501	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116925320A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1007A>T	10.37:g.116925320A>T	ENSP00000347152:p.Tyr336Phe		Somatic				ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	p.Y336F	NM_207303.2	NP_997186.1	WXS	Illumina GAIIx	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1133	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	336					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1007A>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850923	0.71719	.	.	ENSG00000107518	ENST00000355044	T	0.73363	-0.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.97;0.994	T	0.82321	-0.0515	10	0.46703	T	0.11	-14.1365	15.8897	0.79286	1.0:0.0:0.0:0.0	.	336;336	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	F	336	ENSP00000347152:Y336F	ENSP00000347152:Y336F	Y	+	2	0	ATRNL1	116915310	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.784000	0.91818	2.150000	0.67090	0.528000	0.53228	TAC		0.338	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		4	106	0	0	0	1	0	4	106				
WDR5	11091	broad.mit.edu	37	9	137007540	137007540	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:137007540G>A	ENST00000358625.3	+	6	611	c.440G>A	c.(439-441)gGa>gAa	p.G147E	WDR5_ENST00000425041.1_Missense_Mutation_p.G147E	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	147					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATTGTCTCAGGATCCGTAAGT	0.502																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(439-441)gGa>gAa		WD repeat domain 5							105.0	103.0	104.0					9																	137007540		2203	4300	6503	SO:0001583	missense	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137007540G>A	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.440G>A	9.37:g.137007540G>A	ENSP00000351446:p.Gly147Glu		Somatic				WDR5_ENST00000425041.1_Missense_Mutation_p.G147E	p.G147E	NM_017588.2	NP_060058.1	WXS	Illumina GAIIx	Phase_I	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	6	611	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	147					Q91VA5|Q9NWX7|Q9UGP9	Missense_Mutation	SNP	ENST00000358625.3	37	c.440G>A	CCDS6981.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469194	0.63625	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	T;T	0.72051	-0.62;-0.62	3.99	3.99	0.46301	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92874	0.6317	10	0.87932	D	0	.	15.0467	0.71833	0.0:0.0:1.0:0.0	.	147	P61964	WDR5_HUMAN	E	147	ENSP00000351446:G147E;ENSP00000401889:G147E	ENSP00000351446:G147E	G	+	2	0	WDR5	135997361	1.000000	0.71417	0.989000	0.46669	0.336000	0.28762	8.804000	0.91921	1.948000	0.56530	0.455000	0.32223	GGA		0.502	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		7	27	0	0	0	1	0	7	27				
UNC79	57578	broad.mit.edu	37	14	94039103	94039103	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:94039103A>T	ENST00000393151.2	+	16	2011	c.2011A>T	c.(2011-2013)Agt>Tgt	p.S671C	UNC79_ENST00000256339.4_Missense_Mutation_p.S494C|UNC79_ENST00000555664.1_Missense_Mutation_p.S671C|UNC79_ENST00000553484.1_Missense_Mutation_p.S671C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	671					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGTTTTATTAGTTGTCGGTT	0.398																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2011-2013)Agt>Tgt		unc-79 homolog (C. elegans)							257.0	241.0	246.0					14																	94039103		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94039103A>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2011A>T	14.37:g.94039103A>T	ENSP00000376858:p.Ser671Cys		Somatic				UNC79_ENST00000256339.4_Missense_Mutation_p.S494C|UNC79_ENST00000393151.2_Missense_Mutation_p.S671C|UNC79_ENST00000555664.1_Missense_Mutation_p.S671C	p.S671C			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			16	2165	+			671					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2011A>T		.	.	.	.	.	.	.	.	.	.	A	25.5	4.645809	0.87958	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19938	2.12;2.11;2.12;2.11	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	N	0.19112	0.55	0.53005	D	0.999967	D	0.76494	0.999	D	0.80764	0.994	T	0.17048	-1.0382	10	0.66056	D	0.02	-6.7472	15.5431	0.76070	1.0:0.0:0.0:0.0	.	671	C9JQL1	.	C	494;671;671;671;671	ENSP00000256339:S494C;ENSP00000450868:S671C;ENSP00000451360:S671C;ENSP00000376858:S671C	ENSP00000256339:S494C	S	+	1	0	KIAA1409	93108856	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.997000	0.93544	2.073000	0.62155	0.455000	0.32223	AGT		0.398	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	425	0	0	0	1	0	5	425				
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T	rs541583849		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3571-3573)gtA>gtT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							162.0	131.0	141.0					10																	93757421		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93757421A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3573A>T	10.37:g.93757421A>T			Somatic				BTAF1_ENST00000544642.1_Silent_p.V19V	p.V1191V	NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			25	3881	+		Colorectal(252;0.0846)	1191					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.3573A>T	CCDS7419.1																																																																																				0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		7	96	0	0	0	1	0	7	96				
AFF2	2334	broad.mit.edu	37	X	147743694	147743694	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:147743694T>A	ENST00000370460.2	+	3	925	c.446T>A	c.(445-447)aTa>aAa	p.I149K	AFF2_ENST00000370458.1_Missense_Mutation_p.I145K|AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370457.5_Missense_Mutation_p.I145K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	149					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACTCTAATACACAGCAAC	0.453																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(445-447)aTa>aAa		AF4/FMR2 family, member 2							189.0	183.0	185.0					X																	147743694		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743694T>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.446T>A	X.37:g.147743694T>A	ENSP00000359489:p.Ile149Lys		Somatic				AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K|AFF2_ENST00000342251.3_Missense_Mutation_p.I145K	p.I149K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina GAIIx	Phase_I	P51816	AFF2_HUMAN			3	925	+	Acute lymphoblastic leukemia(192;6.56e-05)		149					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.446T>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750251	0.49257	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.31	5.31	0.75309	.	0.271177	0.37483	N	0.002072	T	0.62792	0.2457	N	0.19112	0.55	0.80722	D	1	P;P;P;D;D;P	0.67145	0.949;0.949;0.949;0.995;0.996;0.839	P;P;P;D;D;B	0.78314	0.498;0.498;0.498;0.984;0.991;0.395	T	0.62296	-0.6884	10	0.33940	T	0.23	.	9.2095	0.37309	0.0:0.0824:0.0:0.9176	.	149;145;145;145;149;145	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	K	149;145;145;145	ENSP00000359489:I149K;ENSP00000359486:I145K;ENSP00000345459:I145K;ENSP00000359487:I145K	ENSP00000345459:I145K	I	+	2	0	AFF2	147551386	1.000000	0.71417	0.928000	0.36995	0.856000	0.48823	4.170000	0.58229	1.891000	0.54761	0.486000	0.48141	ATA		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		9	817	0	0	0	1	0	9	817				
VWA3B	200403	broad.mit.edu	37	2	98887143	98887143	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:98887143A>T	ENST00000477737.1	+	22	3047		c.e22-1		VWA3B_ENST00000490947.2_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						tttgtttTTTAGGTTAGATGC	0.318																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.e22-1		von Willebrand factor A domain containing 3B							58.0	56.0	57.0					2																	98887143		1807	4074	5881	SO:0001630	splice_region_variant	200403							g.chr2:98887143A>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2844-1A>T	2.37:g.98887143A>T			Somatic				VWA3B_ENST00000490947.2_Splice_Site		NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			22	3047	+								B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Splice_Site	SNP	ENST00000477737.1	37		CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001228	0.54254	.	.	ENSG00000168658	ENST00000477737;ENST00000473149;ENST00000358269	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4525	0.50160	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3B	98253575	0.997000	0.39634	0.891000	0.34965	0.806000	0.45545	4.563000	0.60823	1.958000	0.56883	0.533000	0.62120	.		0.318	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	Intron	5	91	0	0	0	1	0	5	91				
GIMAP8	155038	broad.mit.edu	37	7	150171609	150171609	+	Missense_Mutation	SNP	G	G	C	rs536291210	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:150171609G>C	ENST00000307271.3	+	4	1766	c.1192G>C	c.(1192-1194)Gcc>Ccc	p.A398P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	398	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGATATAGTGCCTTCAACTA	0.443																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1192-1194)Gcc>Ccc		GTPase, IMAP family member 8							126.0	134.0	132.0					7																	150171609		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171609G>C	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1192G>C	7.37:g.150171609G>C	ENSP00000305107:p.Ala398Pro		Somatic					p.A398P	NM_175571.2	NP_783161.1	WXS	Illumina GAIIx	Phase_I	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1766	+			398						Missense_Mutation	SNP	ENST00000307271.3	37	c.1192G>C	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402518	0.42613	.	.	ENSG00000171115	ENST00000307271	T	0.61742	0.08	4.47	-5.28	0.02755	AIG1 (1);	1.933280	0.02733	N	0.115303	T	0.61800	0.2376	M	0.88310	2.945	0.09310	N	1	P	0.35107	0.484	B	0.36244	0.22	T	0.58730	-0.7585	10	0.56958	D	0.05	.	6.8779	0.24156	0.5454:0.0:0.335:0.1196	.	398	Q8ND71	GIMA8_HUMAN	P	398	ENSP00000305107:A398P	ENSP00000305107:A398P	A	+	1	0	GIMAP8	149802542	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.535000	0.23114	-1.142000	0.02869	0.650000	0.86243	GCC		0.443	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		99	380	0	0	0	1	0	99	380				
SOS1	6654	broad.mit.edu	37	2	39281850	39281850	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:39281850T>G	ENST00000426016.1	-	6	711	c.625A>C	c.(625-627)Atg>Ctg	p.M209L	SOS1_ENST00000395038.2_Missense_Mutation_p.M209L|SOS1_ENST00000402219.2_Missense_Mutation_p.M209L|SOS1_ENST00000428721.2_Missense_Mutation_p.M152L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	209	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTCTGCCATAAATGCTTTT	0.308									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(625-627)Atg>Ctg		son of sevenless homolog 1 (Drosophila)							82.0	92.0	89.0					2																	39281850		2203	4293	6496	SO:0001583	missense	6654	Noonan 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	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39281850T>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.625A>C	2.37:g.39281850T>G	ENSP00000387784:p.Met209Leu		Somatic				SOS1_ENST00000402219.2_Missense_Mutation_p.M209L|SOS1_ENST00000428721.2_Missense_Mutation_p.M152L|SOS1_ENST00000395038.2_Missense_Mutation_p.M209L	p.M209L			WXS	Illumina GAIIx	Phase_I	Q07889	SOS1_HUMAN			6	711	-		all_hematologic(82;0.21)	209			DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.625A>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364897	0.41902	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.88	5.88	0.94601	Dbl homology (DH) domain (4);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	N	0.08118	0	0.58432	D	0.999995	B	0.09022	0.002	B	0.14578	0.011	T	0.76299	-0.3010	10	0.22109	T	0.4	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	209	Q07889	SOS1_HUMAN	L	209;209;209;209;152	ENSP00000387784:M209L;ENSP00000384675:M209L;ENSP00000378479:M209L;ENSP00000399992:M152L	ENSP00000263879:M209L	M	-	1	0	SOS1	39135354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.431000	0.80335	2.243000	0.73865	0.533000	0.62120	ATG		0.308	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	27	0	0	0	1	0	4	27				
DGKI	9162	broad.mit.edu	37	7	137237186	137237186	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:137237186C>A	ENST00000288490.5	-	20	2076	c.2076G>T	c.(2074-2076)cgG>cgT	p.R692R	DGKI_ENST00000453654.2_Silent_p.R392R|DGKI_ENST00000446122.1_Silent_p.R692R|DGKI_ENST00000424189.2_Silent_p.R692R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	692					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCAGGGAGATCCGAATCATAG	0.502																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1174-1176)cgG>cgT		diacylglycerol kinase, iota							162.0	136.0	145.0					7																	137237186		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237186C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2076G>T	7.37:g.137237186C>A			Somatic				DGKI_ENST00000446122.1_Silent_p.R692R|DGKI_ENST00000288490.5_Silent_p.R692R|DGKI_ENST00000424189.2_Silent_p.R692R	p.R392R			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			20	1715	-			692			DAGKc.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.1176G>T	CCDS5845.1																																																																																				0.502	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		42	629	1	0	3.4345e-17	1	3.6911e-17	42	629				
CNTN1	1272	broad.mit.edu	37	12	41337895	41337895	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:41337895C>T	ENST00000551295.2	+	14	1723	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	CNTN1_ENST00000547702.1_Missense_Mutation_p.L536F|CNTN1_ENST00000360099.3_Missense_Mutation_p.L536F|CNTN1_ENST00000547849.1_Missense_Mutation_p.L536F|CNTN1_ENST00000348761.2_Missense_Mutation_p.L525F|CNTN1_ENST00000347616.1_Missense_Mutation_p.L536F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	536	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCCTTGGATCTCACATTTGT	0.403																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1606-1608)Ctc>Ttc		contactin 1							153.0	122.0	133.0					12																	41337895		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337895C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1606C>T	12.37:g.41337895C>T	ENSP00000447006:p.Leu536Phe		Somatic				CNTN1_ENST00000547849.1_Missense_Mutation_p.L536F|CNTN1_ENST00000360099.3_Missense_Mutation_p.L536F|CNTN1_ENST00000547702.1_Missense_Mutation_p.L536F|CNTN1_ENST00000348761.2_Missense_Mutation_p.L525F|CNTN1_ENST00000347616.1_Missense_Mutation_p.L536F	p.L536F	NM_001843.3	NP_001834.2	WXS	Illumina GAIIx	Phase_I	Q12860	CNTN1_HUMAN			14	1723	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	536			Ig-like C2-type 6.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1606C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658066	0.67586	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	5.0	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123891	0.56097	D	0.000034	T	0.44180	0.1281	M	0.84585	2.705	0.48830	D	0.99971	D;D;D	0.89917	0.992;0.999;1.0	P;D;D	0.79784	0.881;0.978;0.993	T	0.47674	-0.9099	10	0.72032	D	0.01	.	18.8715	0.92317	0.0:1.0:0.0:0.0	.	536;525;536	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	F	536;536;536;536;536;525	ENSP00000448004:L536F;ENSP00000447006:L536F;ENSP00000448653:L536F;ENSP00000325660:L536F;ENSP00000353213:L536F;ENSP00000261160:L525F	ENSP00000325660:L536F	L	+	1	0	CNTN1	39624162	1.000000	0.71417	0.982000	0.44146	0.744000	0.42396	5.500000	0.66943	2.774000	0.95407	0.609000	0.83330	CTC		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		17	141	0	0	0	1	0	17	141				
CCDC97	90324	broad.mit.edu	37	19	41825575	41825575	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:41825575C>T	ENST00000269967.3	+	3	721	c.599C>T	c.(598-600)gCc>gTc	p.A200V		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	200										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GAGCTCAGTGCCCGCACCCCA	0.652																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(598-600)gCc>gTc		coiled-coil domain containing 97							63.0	67.0	66.0					19																	41825575		2203	4300	6503	SO:0001583	missense	90324							g.chr19:41825575C>T	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.599C>T	19.37:g.41825575C>T	ENSP00000269967:p.Ala200Val		Somatic					p.A200V	NM_052848.1	NP_443080.1	WXS	Illumina GAIIx	Phase_I	Q96F63	CCD97_HUMAN			3	721	+			200					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.599C>T	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172381	0.21704	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.41	4.41	0.53225	.	0.247728	0.32459	N	0.006068	T	0.53190	0.1781	L	0.54965	1.715	0.33830	D	0.630186	B	0.21753	0.06	B	0.25405	0.06	T	0.62374	-0.6868	9	0.34782	T	0.22	-1.0734	14.0229	0.64568	0.0:1.0:0.0:0.0	.	200	Q96F63	CCD97_HUMAN	V	200	.	ENSP00000269967:A200V	A	+	2	0	CCDC97	46517415	0.830000	0.29337	0.953000	0.39169	0.101000	0.19017	1.159000	0.31749	2.295000	0.77249	0.462000	0.41574	GCC		0.652	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		4	222	0	0	0	1	0	4	222				
KCNA3	3738	broad.mit.edu	37	1	111216283	111216283	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:111216283C>A	ENST00000369769.2	-	1	1372	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	383					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGATCTGCAGCCCCTTGGAGT	0.587																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1147-1149)ggG>ggT		potassium voltage-gated channel, shaker-related subfamily, member 3							95.0	96.0	96.0					1																	111216283		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216283C>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1149G>T	1.37:g.111216283C>A			Somatic					p.G383G	NM_002232.3	NP_002223.3	WXS	Illumina GAIIx	Phase_I	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1372	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	383					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.1149G>T	CCDS828.2																																																																																				0.587	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		10	377	1	0	1.05317e-09	1	1.10642e-09	10	377				
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:52394736T>C	ENST00000354957.3	-	5	937	c.653A>G	c.(652-654)aAg>aGg	p.K218R	ZNF649_ENST00000600738.1_Splice_Site_p.K218R|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACTTCTTGTAGAA	0.483																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(652-654)aAg>aGg		zinc finger protein 649							119.0	114.0	116.0					19																	52394736		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394736T>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.653A>G	19.37:g.52394736T>C	ENSP00000347043:p.Lys218Arg		Somatic				ZNF649_ENST00000600738.1_Splice_Site_p.K218_splice|CTC-429C10.2_ENST00000600329.1_RNA	p.K218R	NM_023074.3	NP_075562.2	WXS	Illumina GAIIx	Phase_I	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	937	-		all_neural(266;0.0602)	218					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.653A>G	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278977	0.23307	.	.	ENSG00000198093	ENST00000354957	T	0.15834	2.39	2.61	0.223	0.15292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09818	0.0241	N	0.21583	0.68	0.09310	N	1	B	0.23185	0.081	B	0.15484	0.013	T	0.33059	-0.9883	9	0.31617	T	0.26	.	6.6154	0.22774	0.0:0.2836:0.0:0.7164	.	218	Q9BS31	ZN649_HUMAN	R	218	ENSP00000347043:K218R	ENSP00000347043:K218R	K	-	2	0	ZNF649	57086548	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.478000	0.06575	0.157000	0.19338	0.327000	0.21459	AAG		0.483	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		5	320	0	0	0	1	0	5	320				
GABRA4	2557	broad.mit.edu	37	4	46930359	46930359	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:46930359A>T	ENST00000264318.3	-	9	2530	c.1548T>A	c.(1546-1548)agT>agA	p.S516R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	516			S -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCTATTTTACTTGTGCCAG	0.428																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1546-1548)agT>agA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						130.0	127.0	128.0					4																	46930359		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930359A>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1548T>A	4.37:g.46930359A>T	ENSP00000264318:p.Ser516Arg		Somatic					p.S516R	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	WXS	Illumina GAIIx	Phase_I	P48169	GBRA4_HUMAN			9	2530	-			516		S -> R (in a breast cancer sample; somatic mutation).			Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1548T>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176275	0.78564	.	.	ENSG00000109158	ENST00000264318	D	0.83506	-1.73	5.82	0.981	0.19756	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	L	0.54323	1.7	0.40924	D	0.984334	D	0.89917	1.0	D	0.97110	1.0	D	0.85483	0.1180	10	0.87932	D	0	.	9.2477	0.37536	0.7269:0.0:0.2731:0.0	.	516	P48169	GBRA4_HUMAN	R	516	ENSP00000264318:S516R	ENSP00000264318:S516R	S	-	3	2	GABRA4	46625116	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.775000	0.38584	0.494000	0.27859	0.528000	0.53228	AGT		0.428	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			8	149	0	0	0	1	0	8	149				
GCA	25801	broad.mit.edu	37	2	163215557	163215557	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:163215557A>T	ENST00000437150.2	+	6	619	c.458A>T	c.(457-459)tAt>tTt	p.Y153F	GCA_ENST00000233612.4_Missense_Mutation_p.Y134F|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	153	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TTTTTAGGTTATAGGTTGAGT	0.289																																						ENST00000437150.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						c.(457-459)tAt>tTt		grancalcin, EF-hand calcium binding protein							90.0	93.0	92.0					2																	163215557		2203	4300	6503	SO:0001583	missense	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163215557A>T	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.458A>T	2.37:g.163215557A>T	ENSP00000394842:p.Tyr153Phe		Somatic				GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Missense_Mutation_p.Y134F	p.Y153F	NM_012198.3	NP_036330.1	WXS	Illumina GAIIx	Phase_I	P28676	GRAN_HUMAN			6	619	+			153			EF-hand 3.		B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	c.458A>T	CCDS2218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.27|19.27	3.794841|3.794841	0.70452|0.70452	.|.	.|.	ENSG00000115271|ENSG00000115271	ENST00000414723|ENST00000437150;ENST00000233612	.|T;T	.|0.39787	.|1.06;1.06	5.41|5.41	4.24|4.24	0.50183|0.50183	.|EF-hand-like domain (1);	.|0.056931	.|0.64402	.|D	.|0.000001	T|T	0.44603|0.44603	0.1301|0.1301	L|L	0.31664|0.31664	0.95|0.95	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	T|T	0.41484|0.41484	-0.9506|-0.9506	5|10	.|0.02654	.|T	.|1	.|.	11.1238|11.1238	0.48306|0.48306	0.8614:0.0:0.0:0.1386|0.8614:0.0:0.0:0.1386	.|.	.|153	.|P28676	.|GRAN_HUMAN	L|F	66|153;134	.|ENSP00000394842:Y153F;ENSP00000233612:Y134F	.|ENSP00000233612:Y134F	I|Y	+|+	1|2	0|0	GCA|GCA	162923803|162923803	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.964000|0.964000	0.63967|0.63967	5.618000|5.618000	0.67722|0.67722	0.960000|0.960000	0.38005|0.38005	0.528000|0.528000	0.53228|0.53228	ATA|TAT		0.289	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		8	107	0	0	0	1	0	8	107				
RAD18	56852	broad.mit.edu	37	3	8944117	8944117	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:8944117A>T	ENST00000264926.2	-	10	1231	c.1115T>A	c.(1114-1116)gTa>gAa	p.V372E		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	372					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTATTGTTACTGTTTTTTG	0.308								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(1114-1116)gTa>gAa	Rad6 pathway	RAD18 homolog (S. cerevisiae)							169.0	157.0	161.0					3																	8944117		2202	4300	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8944117A>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1115T>A	3.37:g.8944117A>T	ENSP00000264926:p.Val372Glu		Somatic					p.V372E	NM_020165.3	NP_064550.3	WXS	Illumina GAIIx	Phase_I	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	10	1231	-			372					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.1115T>A	CCDS2571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.878097|3.878097	0.72294|0.72294	.|.	.|.	ENSG00000070950|ENSG00000070950	ENST00000427329|ENST00000264926	.|T	.|0.21543	.|2.0	4.63|4.63	-0.884|-0.884	0.10597|0.10597	.|.	.|0.879574	.|0.09632	.|N	.|0.776134	T|T	0.12689|0.12689	0.0308|0.0308	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B	.|0.27823	.|0.19	.|B	.|0.20955	.|0.032	T|T	0.37641|0.37641	-0.9697|-0.9697	5|10	.|0.02654	.|T	.|1	-7.1221|-7.1221	4.2604|4.2604	0.10739|0.10739	0.545:0.1698:0.2852:0.0|0.545:0.1698:0.2852:0.0	.|.	.|372	.|Q9NS91	.|RAD18_HUMAN	R|E	8|372	.|ENSP00000264926:V372E	.|ENSP00000264926:V372E	S|V	-|-	3|2	2|0	RAD18|RAD18	8919117|8919117	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	0.250000|0.250000	0.18235|0.18235	-0.296000|-0.296000	0.08947|0.08947	0.460000|0.460000	0.39030|0.39030	AGT|GTA		0.308	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		4	61	0	0	0	1	0	4	61				
PIK3R4	30849	broad.mit.edu	37	3	130400403	130400403	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:130400403C>G	ENST00000356763.3	-	17	4197	c.3640G>C	c.(3640-3642)Gac>Cac	p.D1214H	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1214					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTCTCCATGTCCCACATGGAC	0.423																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(3640-3642)Gac>Cac		phosphoinositide-3-kinase, regulatory subunit 4							105.0	103.0	104.0					3																	130400403		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130400403C>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3640G>C	3.37:g.130400403C>G	ENSP00000349205:p.Asp1214His		Somatic				PIK3R4_ENST00000512677.1_5'UTR	p.D1214H	NM_014602.2	NP_055417.1	WXS	Illumina GAIIx	Phase_I	Q99570	PI3R4_HUMAN			17	4197	-			1214					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.3640G>C	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648742	0.87958	.	.	ENSG00000196455	ENST00000356763	T	0.02472	4.28	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.00021	-1.2344	10	0.72032	D	0.01	-32.5605	20.3166	0.98654	0.0:1.0:0.0:0.0	.	1214	Q99570	PI3R4_HUMAN	H	1214	ENSP00000349205:D1214H	ENSP00000349205:D1214H	D	-	1	0	PIK3R4	131883093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.877000	0.69675	2.809000	0.96659	0.558000	0.71614	GAC		0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		16	201	0	0	0	1	0	16	201				
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.e5-1		absent in melanoma 1							129.0	126.0	127.0					6																	106975178		2203	4300	6503	SO:0001630	splice_region_variant	202						sugar binding	g.chr6:106975178A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3189-1A>T	6.37:g.106975178A>T			Somatic						NM_001624.2	NP_001615.1	WXS	Illumina GAIIx	Phase_I	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3675	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)						Q6P2P0|Q9BTM3	Splice_Site	SNP	ENST00000369066.3	37		CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126822	0.77549	.	.	ENSG00000112297	ENST00000369066	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5233	0.75881	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIM1	107081871	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	7.659000	0.83766	2.126000	0.65437	0.528000	0.53228	.		0.358	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Intron	6	104	0	0	0	1	0	6	104				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2635-2637)acT>acA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							162.0	168.0	166.0					9																	32541886		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541886A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2637T>A	9.37:g.32541886A>T			Somatic				TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2753	-			879			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2637T>A	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		8	214	0	0	0	1	0	8	214				
ATP11C	286410	broad.mit.edu	37	X	138856966	138856966	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:138856966A>T	ENST00000327569.3	-	19	2206	c.2108T>A	c.(2107-2109)cTa>cAa	p.L703Q	ATP11C_ENST00000359686.2_Missense_Mutation_p.L703Q|ATP11C_ENST00000370543.1_Missense_Mutation_p.L703Q|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.L700Q|ATP11C_ENST00000361648.2_Missense_Mutation_p.L703Q	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	703					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTTGTGGTTAGTTCTAAGAG	0.423																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(2098-2100)cTa>cAa		ATPase, class VI, type 11C							178.0	154.0	162.0					X																	138856966		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138856966A>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2108T>A	X.37:g.138856966A>T	ENSP00000332756:p.Leu703Gln		Somatic				ATP11C_ENST00000361648.2_Missense_Mutation_p.L703Q|ATP11C_ENST00000359686.2_Missense_Mutation_p.L703Q|ATP11C_ENST00000370543.1_Missense_Mutation_p.L703Q|ATP11C_ENST00000327569.3_Missense_Mutation_p.L703Q|ATP11C_ENST00000460773.1_5'UTR	p.L700Q			WXS	Illumina GAIIx	Phase_I	Q8NB49	AT11C_HUMAN			19	3126	-	Acute lymphoblastic leukemia(192;0.000127)		703					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.2099T>A	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290435	0.80914	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.75	5.75	0.90469	HAD-like domain (2);	0.000000	0.64402	D	0.000001	T	0.79251	0.4414	L	0.44542	1.39	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.81291	-0.0999	10	0.87932	D	0	.	14.1698	0.65503	1.0:0.0:0.0:0.0	.	703;703	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	Q	700;703;703;703;703	ENSP00000359588:L700Q;ENSP00000355165:L703Q;ENSP00000332756:L703Q;ENSP00000359574:L703Q;ENSP00000352715:L703Q	ENSP00000332756:L703Q	L	-	2	0	ATP11C	138684632	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	1.944000	0.56390	0.381000	0.24937	CTA		0.423	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		7	532	0	0	0	1	0	7	532				
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		F-box protein 7							64.0	65.0	64.0					22																	32879882		2203	4300	6503	SO:0001630	splice_region_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32879882A>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.418-1A>T	22.37:g.32879882A>T			Somatic				FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site		NM_012179.3	NP_036311.3	WXS	Illumina GAIIx	Phase_I	Q9Y3I1	FBX7_HUMAN			3	744	+								B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Splice_Site	SNP	ENST00000266087.7	37		CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854895	0.71719	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO7	31209882	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	6.046000	0.71029	2.174000	0.68829	0.528000	0.53228	.		0.353	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		Intron	5	87	0	0	0	1	0	5	87				
BCORL1	63035	broad.mit.edu	37	X	129149349	129149349	+	Silent	SNP	G	G	A	rs147051252	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:129149349G>A	ENST00000218147.7	+	4	2798	c.2601G>A	c.(2599-2601)tcG>tcA	p.S867S	BCORL1_ENST00000303743.5_Silent_p.S867S|BCORL1_ENST00000359304.2_Silent_p.S867S|BCORL1_ENST00000540052.1_Silent_p.S867S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	867					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCGTTGTTTCGGAGTTTTCTG	0.642													G|||	8	0.00211921	0.0061	0.0	3775	,	,		12276	0.0		0.0	False		,,,				2504	0.0					ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2599-2601)tcG>tcA		BCL6 corepressor-like 1		G		20,3815		0,18,2,1614,569	43.0	42.0	42.0		2601	-8.0	0.9	X	dbSNP_134	42	0,6727		0,0,0,2428,1871	no	coding-synonymous	BCORL1	NM_021946.4		0,18,2,4042,2440	AA,AG,A,GG,G		0.0,0.5215,0.1894		867/1712	129149349	20,10542	2203	4299	6502	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149349G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2601G>A	X.37:g.129149349G>A			Somatic				BCORL1_ENST00000303743.5_Silent_p.S867S|BCORL1_ENST00000218147.7_Silent_p.S867S|BCORL1_ENST00000359304.2_Silent_p.S867S	p.S867S	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	2645	+			867					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2601G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.938164	0.00484	0.005215	0.0	ENSG00000085185	ENST00000441294	.	.	.	5.1	-8.01	0.01122	.	.	.	.	.	T	0.27134	0.0665	.	.	.	0.40013	D	0.975315	.	.	.	.	.	.	T	0.40021	-0.9585	4	.	.	.	-13.9914	2.4364	0.04484	0.3029:0.2534:0.3381:0.1056	.	.	.	.	R	303	.	.	G	+	1	0	BCORL1	128977030	0.000000	0.05858	0.885000	0.34714	0.147000	0.21601	-2.522000	0.00950	-1.288000	0.02378	-3.151000	0.00058	GGA		0.642	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	79	0	0	0	1	0	4	79				
TGM5	9333	broad.mit.edu	37	15	43552757	43552757	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:43552757C>A	ENST00000220420.5	-	2	38	c.31G>T	c.(31-33)Gac>Tac	p.D11Y	TGM5_ENST00000349114.4_Missense_Mutation_p.D11Y	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	11					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCTGGAGGTCTGTGAGGGCC	0.562																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(31-33)Gac>Tac		transglutaminase 5	L-Glutamine(DB00130)						92.0	96.0	95.0					15																	43552757		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552757C>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.31G>T	15.37:g.43552757C>A	ENSP00000220420:p.Asp11Tyr		Somatic				TGM5_ENST00000349114.4_Missense_Mutation_p.D11Y	p.D11Y	NM_201631.3	NP_963925.2	WXS	Illumina GAIIx	Phase_I	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	38	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	11					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.31G>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533749	0.64972	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.90261	-2.64;-2.64	5.64	4.67	0.58626	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.104767	0.64402	D	0.000005	D	0.95793	0.8631	M	0.90082	3.085	0.28476	N	0.915166	D;D	0.89917	0.998;1.0	D;D	0.85130	0.952;0.997	D	0.91135	0.4941	10	0.87932	D	0	-35.0121	13.7541	0.62926	0.0:0.8448:0.1552:0.0	.	11;11	O43548-2;O43548	.;TGM5_HUMAN	Y	11;11;10	ENSP00000220420:D11Y;ENSP00000220419:D11Y	ENSP00000220420:D11Y	D	-	1	0	TGM5	41340049	0.996000	0.38824	0.990000	0.47175	0.706000	0.40770	3.463000	0.53050	2.664000	0.90586	0.555000	0.69702	GAC		0.562	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		104	225	1	0	1.66635e-27	1	1.80642e-27	104	225				
ARID1A	8289	broad.mit.edu	37	1	27097703	27097703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:27097703C>T	ENST00000324856.7	+	12	3663	c.3292C>T	c.(3292-3294)Cag>Tag	p.Q1098*	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1098*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q715*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1098	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGTATATCCAGTGTCTCTA	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3292-3294)Cag>Tag		AT rich interactive domain 1A (SWI-like)							91.0	82.0	85.0					1																	27097703		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27097703C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3292C>T	1.37:g.27097703C>T	ENSP00000320485:p.Gln1098*		Somatic				ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q715*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1098*	p.Q1098*	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	12	3663	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1098			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3292C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	43	9.856913	0.99281	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-6.1526	19.4303	0.94760	0.0:1.0:0.0:0.0	.	.	.	.	X	1098;1098;715	.	ENSP00000320485:Q1098X	Q	+	1	0	ARID1A	26970290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.830000	0.97506	0.655000	0.94253	CAG		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	133	0	0	0	1	0	7	133				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3						organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.e8-1		Hermansky-Pudlak syndrome 3							89.0	94.0	92.0					3																	148872892		2203	4300	6503	SO:0001630	splice_region_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148872892A>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1401-1A>T	3.37:g.148872892A>T			Somatic				HPS3_ENST00000460120.1_Splice_Site		NM_032383.3	NP_115759.2	WXS	Illumina GAIIx	Phase_I	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1540	+								A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Splice_Site	SNP	ENST00000296051.2	37		CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755131	0.69648	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1558	0.59516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HPS3	150355582	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	3.727000	0.54984	2.092000	0.63282	0.533000	0.62120	.		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	Intron	5	112	0	0	0	1	0	5	112				
HIAT1	64645	broad.mit.edu	37	1	100524220	100524220	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:100524220A>T	ENST00000370152.3	+	3	316		c.e3-1		RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTATTCTTTAGGTATTACAT	0.274																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.e3-1		hippocampus abundant transcript 1							122.0	132.0	129.0					1																	100524220		2200	4289	6489	SO:0001630	splice_region_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100524220A>T	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.181-1A>T	1.37:g.100524220A>T			Somatic				RP4-714D9.2_ENST00000432294.1_RNA		NM_033055.2	NP_149044.2	WXS	Illumina GAIIx	Phase_I	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	3	316	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)						Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Splice_Site	SNP	ENST00000370152.3	37		CCDS763.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894409	0.52121	.	.	ENSG00000156875	ENST00000370152	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0053	0.71507	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HIAT1	100296808	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	9.339000	0.96797	2.019000	0.59389	0.402000	0.26972	.		0.274	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055	Intron	8	88	0	0	0	1	0	8	88				
PRR12	57479	broad.mit.edu	37	19	50098148	50098148	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:50098148C>A	ENST00000418929.2	+	4	568	c.556C>A	c.(556-558)Cat>Aat	p.H186N		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGTCCCCTCATGACGTGCT	0.687																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(556-558)Cat>Aat		proline rich 12							25.0	28.0	27.0					19																	50098148		1960	4136	6096	SO:0001583	missense	57479						DNA binding	g.chr19:50098148C>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.556C>A	19.37:g.50098148C>A	ENSP00000394510:p.His186Asn		Somatic					p.H186N	NM_020719.1	NP_065770.1	WXS	Illumina GAIIx	Phase_I	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	568	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	598			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.556C>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886799	0.33348	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.78717	0.4327	.	.	.	0.37107	D	0.900153	D	0.67145	0.996	D	0.76071	0.987	D	0.84652	0.0701	7	0.72032	D	0.01	.	15.4155	0.74962	0.0:1.0:0.0:0.0	.	186	Q9ULL5-3	.	N	186	.	ENSP00000394510:H186N	H	+	1	0	PRR12	54789960	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	5.447000	0.66606	2.252000	0.74401	0.563000	0.77884	CAT		0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		5	7	1	0	0.217242	1	0.218999	5	7				
OR14C36	127066	broad.mit.edu	37	1	248512174	248512174	+	Missense_Mutation	SNP	A	A	T	rs374342974		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:248512174A>T	ENST00000317861.1	+	1	98	c.98A>T	c.(97-99)tAt>tTt	p.Y33F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTTATGTTGTATTTGGTAACT	0.443																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(97-99)tAt>tTt		olfactory receptor, family 14, subfamily C, member 36							208.0	189.0	196.0					1																	248512174		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512174A>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.98A>T	1.37:g.248512174A>T	ENSP00000324534:p.Tyr33Phe		Somatic					p.Y33F	NM_001001918.1	NP_001001918.1	WXS	Illumina GAIIx	Phase_I	Q8NHC7	O14CZ_HUMAN			1	98	+			33					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.98A>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554664	0.45487	.	.	ENSG00000177174	ENST00000317861	T	0.04970	3.52	3.95	2.73	0.32206	.	0.207799	0.23642	U	0.046010	T	0.10252	0.0251	M	0.79805	2.47	0.23913	N	0.996484	P	0.37525	0.598	B	0.36030	0.216	T	0.12167	-1.0558	10	0.66056	D	0.02	.	9.4989	0.39006	0.8426:0.0:0.0:0.1574	.	33	Q8NHC7	O14CZ_HUMAN	F	33	ENSP00000324534:Y33F	ENSP00000324534:Y33F	Y	+	2	0	OR14C36	246578797	0.873000	0.30073	0.015000	0.15790	0.051000	0.14879	2.682000	0.46934	1.682000	0.51000	0.324000	0.21423	TAT		0.443	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		6	386	0	0	0	1	0	6	386				
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:23180386A>T	ENST00000339077.5	+	5	685		c.e5-1		KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000322231.7_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e6-1		kelch-like family member 7							59.0	59.0	59.0					7																	23180386		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180386A>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.443-1A>T	7.37:g.23180386A>T			Somatic				KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000339077.4_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			6	866	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37		CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334168	0.41297	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL7	23146911	1.000000	0.71417	0.978000	0.43139	0.327000	0.28475	8.606000	0.90888	2.032000	0.59987	0.379000	0.24179	.		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Intron	8	114	0	0	0	1	0	8	114				
UMODL1	89766	broad.mit.edu	37	21	43529671	43529671	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:43529671G>A	ENST00000408910.2	+	10	1519		c.e10-1		UMODL1_ENST00000400424.2_Splice_Site|UMODL1_ENST00000400427.1_Splice_Site|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Splice_Site	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCCTGGCAGACTGGGACGA	0.577																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.e10-1		uromodulin-like 1							91.0	102.0	98.0					21																	43529671		2039	4184	6223	SO:0001630	splice_region_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43529671G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1520-1G>A	21.37:g.43529671G>A			Somatic				UMODL1_ENST00000400424.1_Splice_Site|UMODL1_ENST00000408910.2_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site		NM_001199527.1	NP_001186456.1	WXS	Illumina GAIIx	Phase_I	Q5DID0	UROL1_HUMAN			10	1699	+								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Splice_Site	SNP	ENST00000408910.2	37		CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086695	0.55861	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	.	.	.	3.04	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8362	0.40971	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UMODL1	42402740	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	4.250000	0.58772	2.013000	0.59113	0.655000	0.94253	.		0.577	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		Intron	29	73	0	0	0	1	0	29	73				
TROAP	10024	broad.mit.edu	37	12	49724403	49724403	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:49724403A>G	ENST00000257909.3	+	13	1851	c.1775A>G	c.(1774-1776)tAc>tGc	p.Y592C	TROAP_ENST00000547923.1_Intron|TROAP_ENST00000551245.1_Missense_Mutation_p.Y592C	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	592	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTAGAGTCCTACTGTAGGATT	0.617																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1774-1776)tAc>tGc		trophinin associated protein							72.0	70.0	71.0					12																	49724403		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724403A>G	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1775A>G	12.37:g.49724403A>G	ENSP00000257909:p.Tyr592Cys		Somatic				TROAP_ENST00000547923.1_Intron|TROAP_ENST00000257909.3_Missense_Mutation_p.Y592C	p.Y592C			WXS	Illumina GAIIx	Phase_I	Q12815	TROAP_HUMAN			13	1886	+			592			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1775A>G	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	a	5.880	0.346480	0.11126	.	.	ENSG00000135451	ENST00000551245;ENST00000257909	.	.	.	3.34	-3.85	0.04243	.	1.490010	0.03952	N	0.288732	T	0.09069	0.0224	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18272	-1.0342	9	0.28530	T	0.3	7.0657	4.9225	0.13876	0.4025:0.2764:0.321:0.0	.	592;592	F8W130;Q12815	.;TROAP_HUMAN	C	592	.	ENSP00000257909:Y592C	Y	+	2	0	TROAP	48010670	0.904000	0.30761	0.000000	0.03702	0.008000	0.06430	-0.239000	0.08965	-0.648000	0.05437	-1.237000	0.01550	TAC		0.617	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		6	247	0	0	0	1	0	6	247				
DPAGT1	1798	broad.mit.edu	37	11	118981555	118981555	+	5'Flank	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:118981555A>T	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_5'Flank|C2CD2L_ENST00000336702.3_Splice_Site			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCCTGTCTGTAGTTGGAAGTC	0.527																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.e4-1		C2CD2-like							138.0	140.0	139.0					11																	118981555		2200	4295	6495	SO:0001631	upstream_gene_variant	9854					integral to membrane		g.chr11:118981555A>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981555A>T	Exception_encountered		Somatic						NM_014807.3	NP_055622.3	WXS	Illumina GAIIx	Phase_I	O14523	C2C2L_HUMAN			4	929	+								O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	37		CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	9.174	1.021897	0.19433	.	.	ENSG00000172375	ENST00000336702	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8872	0.52608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2CD2L	118486765	1.000000	0.71417	0.855000	0.33649	0.173000	0.22820	7.146000	0.77373	2.026000	0.59711	0.533000	0.62120	.		0.527	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		9	472	0	0	0	1	0	9	472				
PCLO	27445	broad.mit.edu	37	7	82582703	82582703	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:82582703A>T	ENST00000333891.9	-	5	7903	c.7566T>A	c.(7564-7566)acT>acA	p.T2522T	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Silent_p.T2522T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTTTGTGTAGTTGTTGGAA	0.423																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(7564-7566)acT>acA		piccolo presynaptic cytomatrix protein							113.0	109.0	111.0					7																	82582703		1932	4134	6066	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582703A>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7566T>A	7.37:g.82582703A>T			Somatic				PCLO_ENST00000333891.8_Silent_p.T2522T	p.T2522T	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			5	7903	-			2453						Silent	SNP	ENST00000333891.9	37	c.7566T>A	CCDS47630.1																																																																																				0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	164	0	0	0	1	0	7	164				
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(751-753)ttA>ttT		taste receptor, type 2, member 3							100.0	92.0	95.0					7																	141464711		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464711A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.753A>T	7.37:g.141464711A>T	ENSP00000247879:p.Leu251Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.L251F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	815	+	Melanoma(164;0.0171)		251					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.753A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542307	0.27563	.	.	ENSG00000127362	ENST00000247879	T	0.41758	0.99	5.41	-5.76	0.02376	.	1.317490	0.05404	N	0.541237	T	0.24624	0.0597	L	0.31157	0.91	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.34950	-0.9808	10	0.72032	D	0.01	.	1.1254	0.01734	0.3389:0.3138:0.1416:0.2056	.	251	Q9NYW6	TA2R3_HUMAN	F	251	ENSP00000247879:L251F	ENSP00000247879:L251F	L	+	3	2	TAS2R3	141111180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.464000	0.06963	-0.472000	0.04984	TTA		0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			13	292	0	0	0	1	0	13	292				
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42819403A>T	ENST00000301204.3	+	7	610	c.569A>T	c.(568-570)tAc>tTc	p.Y190F	TMEM145_ENST00000598766.1_Missense_Mutation_p.Y214F	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	190					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537																																						ENST00000598766.1																			1	Substitution - Missense(1)	p.Y190F(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(640-642)tAc>tTc		transmembrane protein 145							183.0	159.0	167.0					19																	42819403		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819403A>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.569A>T	19.37:g.42819403A>T	ENSP00000301204:p.Tyr190Phe		Somatic				TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F	p.Y214F			WXS	Illumina GAIIx	Phase_I	Q8NBT3	TM145_HUMAN			7	641	+		Prostate(69;0.00682)	190						Missense_Mutation	SNP	ENST00000301204.3	37	c.641A>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705338	0.48412	.	.	ENSG00000167619	ENST00000301204	T	0.42131	0.98	4.2	4.2	0.49525	Rhodopsin-like GPCR transmembrane domain (1);	0.168624	0.39985	N	0.001204	T	0.34221	0.0890	L	0.53249	1.67	0.47476	D	0.999434	B	0.34181	0.44	B	0.32342	0.144	T	0.10268	-1.0637	10	0.21540	T	0.41	-4.2249	9.9465	0.41611	1.0:0.0:0.0:0.0	.	190	Q8NBT3	TM145_HUMAN	F	190	ENSP00000301204:Y190F	ENSP00000301204:Y190F	Y	+	2	0	TMEM145	47511243	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.918000	0.63376	1.658000	0.50742	0.374000	0.22700	TAC		0.537	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		6	283	0	0	0	1	0	6	283				
NCOA1	8648	broad.mit.edu	37	2	24888786	24888786	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:24888786T>A	ENST00000406961.1	+	6	908		c.e6+2		NCOA1_ENST00000405141.1_Splice_Site|NCOA1_ENST00000348332.3_Splice_Site|NCOA1_ENST00000288599.5_Splice_Site|NCOA1_ENST00000395856.3_Splice_Site|NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000538539.1_Splice_Site			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1						androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAACAAGGTAAAAAAGAAA	0.274			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.e7+2		nuclear receptor coactivator 1							72.0	76.0	75.0					2																	24888786		2203	4300	6503	SO:0001630	splice_region_variant	8648							g.chr2:24888786T>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.256+2T>A	2.37:g.24888786T>A			Somatic				NCOA1_ENST00000348332.3_Splice_Site|NCOA1_ENST00000288599.5_Splice_Site|NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000406961.1_Splice_Site|NCOA1_ENST00000538539.1_Splice_Site|NCOA1_ENST00000395856.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			7	967	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Splice_Site	SNP	ENST00000406961.1	37		CCDS1712.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825723	0.71143	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	.	.	.	4.71	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4413	0.50099	0.0:0.0:0.1512:0.8488	.	.	.	.	.	-1	.	.	.	+	.	.	NCOA1	24742290	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	7.726000	0.84824	0.886000	0.36113	0.533000	0.62120	.		0.274	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223	Intron	4	115	0	0	0	1	0	4	115				
EP300	2033	broad.mit.edu	37	22	41566408	41566408	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:41566408A>T	ENST00000263253.7	+	27	5505		c.e27-1		RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATTGTTAGTTACACAAC	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.e27-1		E1A binding protein p300							109.0	99.0	102.0					22																	41566408		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566408A>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4287-1A>T	22.37:g.41566408A>T			Somatic				RP1-85F18.6_ENST00000415054.1_RNA		NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			27	5505	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37		CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946030	0.73672	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2125	0.48806	0.8466:0.1534:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39896354	1.000000	0.71417	0.662000	0.29724	0.510000	0.34073	9.237000	0.95368	2.121000	0.65114	0.533000	0.62120	.		0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	7	163	0	0	0	1	0	7	163				
KRT39	390792	broad.mit.edu	37	17	39122859	39122859	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:39122859C>T	ENST00000355612.2	-	1	285	c.250G>A	c.(250-252)Gac>Aac	p.D84N	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	84	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGCTGCAGTCATCCAGAGAA	0.498																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(250-252)Gac>Aac		keratin 39							200.0	200.0	200.0					17																	39122859		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39122859C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.250G>A	17.37:g.39122859C>T	ENSP00000347823:p.Asp84Asn		Somatic				AC004231.2_ENST00000418393.1_RNA	p.D84N	NM_213656.3	NP_998821.3	WXS	Illumina GAIIx	Phase_I	Q6A163	K1C39_HUMAN			1	285	-		Breast(137;0.00043)|Ovarian(249;0.15)	84			Head.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.250G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500384	0.26861	.	.	ENSG00000196859	ENST00000355612	D	0.81739	-1.53	5.51	0.717	0.18196	.	0.000000	0.47093	D	0.000248	T	0.67627	0.2913	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44967	-0.9293	10	0.13853	T	0.58	.	4.1714	0.10331	0.271:0.4604:0.0:0.2686	.	84	Q6A163	K1C39_HUMAN	N	84	ENSP00000347823:D84N	ENSP00000347823:D84N	D	-	1	0	KRT39	36376385	0.023000	0.18921	0.412000	0.26496	0.043000	0.13939	0.966000	0.29331	0.384000	0.24942	-0.152000	0.13540	GAC		0.498	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		79	742	0	0	0	1	0	79	742				
ZNF275	10838	broad.mit.edu	37	X	152612702	152612702	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:152612702G>A	ENST00000421401.3	+	4	736	c.559G>A	c.(559-561)Gga>Aga	p.G187R	ZNF275_ENST00000370249.2_Missense_Mutation_p.G134R|ZNF275_ENST00000440091.1_Missense_Mutation_p.G217R|ZNF275_ENST00000370251.3_Missense_Mutation_p.G187R			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G134R(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGAGTGCGGAAAACGGTT	0.602																																						ENST00000421401.3																			1	Substitution - Missense(1)	p.G134R(1)	large_intestine(1)	endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(559-561)Gga>Aga		zinc finger protein 275							88.0	93.0	91.0					X																	152612702		2197	4287	6484	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612702G>A	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.559G>A	X.37:g.152612702G>A	ENSP00000398977:p.Gly187Arg		Somatic				ZNF275_ENST00000370249.2_Missense_Mutation_p.G134R|ZNF275_ENST00000440091.1_Missense_Mutation_p.G217R|ZNF275_ENST00000370251.2_Missense_Mutation_p.G187R	p.G187R	NM_001080485.3	NP_001073954.3	WXS	Illumina GAIIx	Phase_I	A6NFS0	A6NFS0_HUMAN			4	736	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		187					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.559G>A		.	.	.	.	.	.	.	.	.	.	G	16.73	3.204493	0.58234	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.35789	1.29;1.29;4.31;1.29	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000448	T	0.59945	0.2231	M	0.73962	2.25	0.36738	D	0.882072	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69851	-0.5033	10	0.72032	D	0.01	-53.0828	14.4763	0.67548	0.0:0.0:1.0:0.0	.	187;187	Q9NSD4;A6NFS0	ZN275_HUMAN;.	R	187;187;217;134	ENSP00000359271:G187R;ENSP00000398977:G187R;ENSP00000411097:G217R;ENSP00000359269:G134R	ENSP00000359269:G134R	G	+	1	0	ZNF275	152265896	1.000000	0.71417	0.913000	0.36048	0.580000	0.36256	5.493000	0.66899	2.386000	0.81285	0.513000	0.50165	GGA		0.602	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		4	337	0	0	0	1	0	4	337				
SPAG5	10615	broad.mit.edu	37	17	26906772	26906772	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:26906772C>T	ENST00000321765.5	-	17	3213	c.2881G>A	c.(2881-2883)Gca>Aca	p.A961T	ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	961					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCCTAACCTGCGGGCTGAAGG	0.478																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2881-2883)Gca>Aca		sperm associated antigen 5							132.0	137.0	136.0					17																	26906772		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26906772C>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2881G>A	17.37:g.26906772C>T	ENSP00000323300:p.Ala961Thr		Somatic					p.A961T	NM_006461.3	NP_006452.3	WXS	Illumina GAIIx	Phase_I	Q96R06	SPAG5_HUMAN			17	3213	-	Lung NSC(42;0.00431)		961					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2881G>A	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	4.362	0.066639	0.08388	.	.	ENSG00000076382	ENST00000321765	T	0.28454	1.61	5.4	-1.22	0.09494	.	0.581698	0.16609	N	0.206994	T	0.07999	0.0200	N	0.02247	-0.625	0.23376	N	0.99781	B	0.13145	0.007	B	0.08055	0.003	T	0.33954	-0.9848	10	0.06891	T	0.86	.	4.4537	0.11633	0.0:0.2992:0.3347:0.3662	.	961	Q96R06	SPAG5_HUMAN	T	961	ENSP00000323300:A961T	ENSP00000323300:A961T	A	-	1	0	SPAG5	23930899	0.997000	0.39634	0.997000	0.53966	0.983000	0.72400	0.010000	0.13242	-0.123000	0.11745	-0.320000	0.08662	GCA		0.478	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		5	532	0	0	0	1	0	5	532				
AAAS	8086	broad.mit.edu	37	12	53715254	53715254	+	5'UTR	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:53715254C>T	ENST00000209873.4	-	0	161				AAAS_ENST00000549983.1_Splice_Site|AAAS_ENST00000394384.3_5'UTR|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GCACATCTTGCCGGTTCGCAG	0.607											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000549983.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.e1+1		achalasia, adrenocortical insufficiency, alacrimia							111.0	112.0	112.0					12																	53715254		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715254C>T	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.-5G>A	12.37:g.53715254C>T			Somatic	OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_5'UTR|AAAS_ENST00000209873.4_5'UTR				WXS	Illumina GAIIx	Phase_I	Q9NRG9	AAAS_HUMAN			1	146	-								Q5JB47|Q9NWI6|Q9UG19	Splice_Site	SNP	ENST00000209873.4	37		CCDS8856.1																																																																																				0.607	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			5	292	0	0	0	1	0	5	292				
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:183495733A>T	ENST00000347615.2	+	5	434	c.315A>T	c.(313-315)ttA>ttT	p.L105F	SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000367537.3_Missense_Mutation_p.L134F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(400-402)ttA>ttT		SMG7 nonsense mediated mRNA decay factor							78.0	83.0	81.0					1																	183495733		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495733A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.315A>T	1.37:g.183495733A>T	ENSP00000340766:p.Leu105Phe		Somatic				SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F	p.L134F			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	597	+			105					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.402A>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209266	0.58343	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.61	3.26	0.37387	Telomerase activating protein Est1 (1);	0.000000	0.64402	D	0.000003	T	0.38983	0.1061	M	0.70275	2.135	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.994;1.0;1.0;0.999;1.0;1.0	T	0.14144	-1.0483	10	0.51188	T	0.08	-6.5871	5.7363	0.18069	0.7332:0.0:0.1402:0.1266	.	63;134;63;105;105;105	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	F	63;134;63;63;105;105;105	ENSP00000407629:L63F;ENSP00000356507:L134F;ENSP00000426915:L63F;ENSP00000388390:L63F;ENSP00000340766:L105F;ENSP00000425133:L105F;ENSP00000421358:L105F	ENSP00000340766:L105F	L	+	3	2	SMG7	181762356	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.431000	0.44775	1.056000	0.40484	0.533000	0.62120	TTA		0.348	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		6	105	0	0	0	1	0	6	105				
DNAH5	1767	broad.mit.edu	37	5	13865955	13865955	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:13865955C>A	ENST00000265104.4	-	27	4281	c.4177G>T	c.(4177-4179)Ggc>Tgc	p.G1393C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1393	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGGCAGGCCAAAAAGCTCC	0.333									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4177-4179)Ggc>Tgc		dynein, axonemal, heavy chain 5							54.0	59.0	58.0					5																	13865955		2202	4298	6500	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13865955C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4177G>T	5.37:g.13865955C>A	ENSP00000265104:p.Gly1393Cys		Somatic				CTB-51A17.1_ENST00000503244.1_RNA	p.G1393C	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			27	4281	-	Lung NSC(4;0.00476)		1393			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4177G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502809	0.85176	.	.	ENSG00000039139	ENST00000265104	T	0.26957	1.7	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.90650	3.135	0.80722	D	1	D	0.58970	0.984	D	0.67382	0.951	T	0.65957	-0.6042	10	0.66056	D	0.02	.	20.5605	0.99326	0.0:1.0:0.0:0.0	.	1393	Q8TE73	DYH5_HUMAN	C	1393	ENSP00000265104:G1393C	ENSP00000265104:G1393C	G	-	1	0	DNAH5	13918955	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	7.811000	0.86092	2.868000	0.98415	0.637000	0.83480	GGC		0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		23	30	1	0	0.01892	1	0.0193336	23	30				
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.e19-1		threonyl-tRNA synthetase	L-Threonine(DB00156)						59.0	53.0	55.0					5																	33467663		2203	4300	6503	SO:0001630	splice_region_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467663A>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2024-1A>T	5.37:g.33467663A>T			Somatic				TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000502553.1_Splice_Site		NM_152295.4	NP_689508.3	WXS	Illumina GAIIx	Phase_I	P26639	SYTC_HUMAN			19	2334	+								A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Splice_Site	SNP	ENST00000265112.3	37		CCDS3899.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268659	0.80469	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6393	0.76984	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TARS	33503420	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	9.211000	0.95120	2.091000	0.63221	0.455000	0.32223	.		0.408	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	Intron	5	65	0	0	0	1	0	5	65				
RERE	473	broad.mit.edu	37	1	8716132	8716132	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:8716132A>T	ENST00000337907.3	-	3	859	c.225T>A	c.(223-225)aaT>aaA	p.N75K	RERE_ENST00000400907.2_Missense_Mutation_p.N75K|RERE_ENST00000400908.2_Missense_Mutation_p.N75K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	75					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTTCTTCTTATTCTTCTTCG	0.448																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(223-225)aaT>aaA		arginine-glutamic acid dipeptide (RE) repeats							331.0	310.0	318.0					1																	8716132		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716132A>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.225T>A	1.37:g.8716132A>T	ENSP00000338629:p.Asn75Lys		Somatic				RERE_ENST00000400907.2_Missense_Mutation_p.N75K|RERE_ENST00000400908.2_Missense_Mutation_p.N75K	p.N75K	NM_012102.3	NP_036234.3	WXS	Illumina GAIIx	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	859	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	75					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.225T>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237965	0.58886	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.47528	0.84;0.84	5.45	2.6	0.31112	.	.	.	.	.	T	0.30572	0.0769	N	0.14661	0.345	0.31250	N	0.694204	B	0.09022	0.002	B	0.14023	0.01	T	0.29792	-1.0000	9	0.59425	D	0.04	-12.5481	9.7638	0.40548	0.2238:0.0:0.7762:0.0	.	75	Q9P2R6	RERE_HUMAN	K	75	ENSP00000338629:N75K;ENSP00000383700:N75K	ENSP00000338629:N75K	N	-	3	2	RERE	8638719	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.438000	0.59961	0.682000	0.31407	-1.059000	0.02297	AAT		0.448	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			12	1135	0	0	0	1	0	12	1135				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G			Somatic				NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	107	0	0	0	1	0	4	107				
PZP	5858	broad.mit.edu	37	12	9305466	9305466	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:9305466C>G	ENST00000261336.2	-	31	4103	c.4075G>C	c.(4075-4077)Gat>Cat	p.D1359H	PZP_ENST00000381997.2_Missense_Mutation_p.D1145H	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1359					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D1359N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGTGTCCATCGCAAGTTTGG	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			1	Substitution - Missense(1)	p.D1359N(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(4075-4077)Gat>Cat		pregnancy-zone protein							140.0	128.0	132.0					12																	9305466		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9305466C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4075G>C	12.37:g.9305466C>G	ENSP00000261336:p.Asp1359His		Somatic				PZP_ENST00000381997.2_Missense_Mutation_p.D1145H	p.D1359H	NM_002864.2	NP_002855.2	WXS	Illumina GAIIx	Phase_I					31	4103	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4075G>C	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800257	0.31869	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.32272	1.46;1.46	3.79	1.31	0.21738	Alpha-macroglobulin, receptor-binding (2);	0.349456	0.20529	U	0.090551	T	0.48909	0.1526	M	0.86178	2.8	0.25303	N	0.989268	D;D	0.65815	0.985;0.995	P;P	0.59761	0.8;0.863	T	0.38824	-0.9643	10	0.72032	D	0.01	.	6.5741	0.22555	0.0:0.5731:0.0:0.4269	.	1145;1359	P20742-2;P20742	.;PZP_HUMAN	H	1359;1145	ENSP00000261336:D1359H;ENSP00000371427:D1145H	ENSP00000261336:D1359H	D	-	1	0	PZP	9196733	0.002000	0.14202	0.729000	0.30791	0.894000	0.52154	0.010000	0.13242	0.131000	0.18576	0.563000	0.77884	GAT		0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		75	205	0	0	0	1	0	75	205				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000233190.6_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	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.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	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.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	74	0	0	0	1	0	4	74				
MCTP2	55784	broad.mit.edu	37	15	95001402	95001402	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:95001402A>G	ENST00000357742.4	+	19	2287	c.2287A>G	c.(2287-2289)Atg>Gtg	p.M763V	MCTP2_ENST00000451018.3_Missense_Mutation_p.M708V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	763					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAATCTATATGGTACAGGA	0.318																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(2287-2289)Atg>Gtg		multiple C2 domains, transmembrane 2							112.0	119.0	117.0					15																	95001402		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95001402A>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2287A>G	15.37:g.95001402A>G	ENSP00000350377:p.Met763Val		Somatic				MCTP2_ENST00000451018.3_Missense_Mutation_p.M708V	p.M763V	NM_018349.3	NP_060819.3	WXS	Illumina GAIIx	Phase_I	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		19	2287	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		763					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.2287A>G	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031019	0.54790	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.66815	-0.23;-0.05	4.94	4.94	0.65067	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.961;1.0	P;D	0.83275	0.794;0.996	T	0.81048	-0.1109	10	0.36615	T	0.2	.	14.931	0.70914	1.0:0.0:0.0:0.0	.	708;763	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	V	708;763	ENSP00000395109:M708V;ENSP00000350377:M763V	ENSP00000350377:M763V	M	+	1	0	MCTP2	92802406	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.863000	0.69568	1.976000	0.57569	0.454000	0.30748	ATG		0.318	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		27	39	0	0	0	1	0	27	39				
E2F8	79733	broad.mit.edu	37	11	19259497	19259497	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:19259497G>A	ENST00000527884.1	-	3	430	c.198C>T	c.(196-198)ctC>ctT	p.L66L	E2F8_ENST00000250024.4_Silent_p.L66L|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	66					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCACTGATGAGCATTTTCA	0.517																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(196-198)ctC>ctT		E2F transcription factor 8							190.0	194.0	193.0					11																	19259497		2199	4293	6492	SO:0001819	synonymous_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19259497G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.198C>T	11.37:g.19259497G>A			Somatic				E2F8_ENST00000250024.4_Silent_p.L66L|RP11-428C19.4_ENST00000527978.1_RNA	p.L66L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			3	430	-			66					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	c.198C>T	CCDS7849.1																																																																																				0.517	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		29	299	0	0	0	1	0	29	299				
INCENP	3619	broad.mit.edu	37	11	61908398	61908398	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:61908398T>C	ENST00000394818.3	+	10	1677	c.1475T>C	c.(1474-1476)cTc>cCc	p.L492P	INCENP_ENST00000278849.4_Missense_Mutation_p.L492P	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	492					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTACGGCCCCTCCGGACCTTT	0.632																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1474-1476)cTc>cCc		inner centromere protein antigens 135/155kDa							73.0	75.0	74.0					11																	61908398		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61908398T>C	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1475T>C	11.37:g.61908398T>C	ENSP00000378295:p.Leu492Pro		Somatic				INCENP_ENST00000278849.4_Missense_Mutation_p.L492P	p.L492P	NM_001040694.1	NP_001035784.1	WXS	Illumina GAIIx	Phase_I	Q9NQS7	INCE_HUMAN			10	1677	+			492					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.1475T>C	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546817	0.45383	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.17691	2.26;2.32	5.3	4.1	0.47936	.	0.157127	0.29884	N	0.010941	T	0.14399	0.0348	M	0.64997	1.995	0.52099	D	0.999945	B;B;B	0.32350	0.109;0.366;0.251	B;B;B	0.29077	0.068;0.098;0.045	T	0.06972	-1.0797	10	0.30854	T	0.27	.	4.1352	0.10167	0.1799:0.0935:0.0:0.7266	.	492;492;492	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	P	492	ENSP00000378295:L492P;ENSP00000278849:L492P	ENSP00000278849:L492P	L	+	2	0	INCENP	61664974	0.942000	0.31987	1.000000	0.80357	0.984000	0.73092	2.011000	0.40922	2.015000	0.59207	0.533000	0.62120	CTC		0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		10	44	0	0	0	1	0	10	44				
EFR3A	23167	broad.mit.edu	37	8	132962214	132962214	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:132962214A>T	ENST00000254624.5	+	5	591		c.e5-1		EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGTTTTTTAGTTTGTCAAA	0.308																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.e5-1		EFR3 homolog A (S. cerevisiae)							60.0	54.0	56.0					8																	132962214		2202	4299	6501	SO:0001630	splice_region_variant	23167					plasma membrane	binding	g.chr8:132962214A>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.367-1A>T	8.37:g.132962214A>T			Somatic				EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site		NM_015137.4	NP_055952.2	WXS	Illumina GAIIx	Phase_I	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		5	591	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)							A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Splice_Site	SNP	ENST00000254624.5	37		CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059397	0.76074	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8088	0.69977	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFR3A	133031396	1.000000	0.71417	0.976000	0.42696	0.866000	0.49608	7.486000	0.81215	2.082000	0.62665	0.455000	0.32223	.		0.308	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	Intron	4	34	0	0	0	1	0	4	34				
LPA	4018	broad.mit.edu	37	6	161027645	161027645	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:161027645G>A	ENST00000316300.5	-	17	2693	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	LPA_ENST00000447678.1_Silent_p.A883A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3391	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AACAATAAGGGGCTGCCACAG	0.517																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2647-2649)gcC>gcT		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						126.0	131.0	129.0					6																	161027645		2107	4271	6378	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027645G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2649C>T	6.37:g.161027645G>A			Somatic				LPA_ENST00000316300.5_Silent_p.A883A	p.A883A	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2769	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3391			Kringle 8.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.2649C>T	CCDS43523.1																																																																																				0.517	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	531	0	0	0	1	0	5	531				
PGLYRP4	57115	broad.mit.edu	37	1	153303264	153303264	+	Silent	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:153303264G>C	ENST00000359650.5	-	9	1165	c.1101C>G	c.(1099-1101)acC>acG	p.T367T	PGLYRP4_ENST00000368739.3_Silent_p.T363T|RNU6-160P_ENST00000384591.1_RNA	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	367					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGAGGCCAGGTGCTGATGA	0.552																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(1087-1089)acC>acG		peptidoglycan recognition protein 4							122.0	113.0	116.0					1																	153303264		2203	4300	6503	SO:0001819	synonymous_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153303264G>C	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.1101C>G	1.37:g.153303264G>C			Somatic				PGLYRP4_ENST00000359650.5_Silent_p.T367T	p.T363T			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		9	1447	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		367					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	ENST00000359650.5	37	c.1089C>G	CCDS30871.1																																																																																				0.552	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		129	298	0	0	0	1	0	129	298				
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e8-1		solute carrier family 35, member F1																																				SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118635189A>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1003-1A>T	6.37:g.118635189A>T			Somatic						NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1203	+								E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Splice_Site	SNP	ENST00000360388.4	37		CCDS34524.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953854	0.73902	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC35F1	118741882	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	7.987000	0.88182	2.186000	0.69663	0.533000	0.62120	.		0.473	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Intron	5	78	0	0	0	1	0	5	78				
B3GNT5	84002	broad.mit.edu	37	3	182987783	182987783	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:182987783A>G	ENST00000326505.3	+	2	727	c.197A>G	c.(196-198)cAc>cGc	p.H66R	B3GNT5_ENST00000460419.1_Missense_Mutation_p.H66R|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.H66R|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	66					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCTCTTAAGCACACCTCAGCG	0.408																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(196-198)cAc>cGc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							114.0	111.0	112.0					3																	182987783		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987783A>G	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.197A>G	3.37:g.182987783A>G	ENSP00000316173:p.His66Arg		Somatic				B3GNT5_ENST00000465010.1_Missense_Mutation_p.H66R|B3GNT5_ENST00000460419.1_Missense_Mutation_p.H66R|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	p.H66R	NM_032047.4	NP_114436.1	WXS	Illumina GAIIx	Phase_I	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	727	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		66					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.197A>G	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	A	1.352	-0.591047	0.03799	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000464923;ENST00000465010	T;T;T	0.37584	1.19;1.19;1.19	5.92	-5.48	0.02592	.	1.356310	0.05326	N	0.527425	T	0.23133	0.0559	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31081	-0.9956	10	0.15499	T	0.54	.	15.4861	0.75569	0.8287:0.0:0.1713:0.0	.	66	Q9BYG0	B3GN5_HUMAN	R	66	ENSP00000316173:H66R;ENSP00000420778:H66R;ENSP00000417868:H66R	ENSP00000316173:H66R	H	+	2	0	B3GNT5	184470477	0.389000	0.25205	0.007000	0.13788	0.552000	0.35366	0.488000	0.22371	-0.881000	0.03992	0.533000	0.62120	CAC		0.408	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		54	140	0	0	0	1	0	54	140				
UTRN	7402	broad.mit.edu	37	6	144811267	144811267	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:144811267C>T	ENST00000367545.3	+	30	4195	c.4195C>T	c.(4195-4197)Cgt>Tgt	p.R1399C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1399	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGAAATATGCGTTCTCAGCC	0.468																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(4195-4197)Cgt>Tgt		utrophin							86.0	92.0	90.0					6																	144811267		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144811267C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4195C>T	6.37:g.144811267C>T	ENSP00000356515:p.Arg1399Cys		Somatic					p.R1399C	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	30	4195	+		Ovarian(120;0.218)	1399			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4195C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251755	0.80135	.	.	ENSG00000152818	ENST00000367545	T	0.19394	2.15	5.58	3.78	0.43462	.	0.122821	0.34580	N	0.003857	T	0.23410	0.0566	L	0.54323	1.7	0.24939	N	0.991861	D	0.89917	1.0	D	0.66602	0.945	T	0.05599	-1.0875	10	0.87932	D	0	.	11.1245	0.48310	0.1286:0.8046:0.0:0.0668	.	1399	P46939	UTRO_HUMAN	C	1399	ENSP00000356515:R1399C	ENSP00000356515:R1399C	R	+	1	0	UTRN	144852960	0.978000	0.34361	0.005000	0.12908	0.804000	0.45430	2.558000	0.45879	0.814000	0.34374	0.655000	0.94253	CGT		0.468	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			3	144	0	0	0	1	0	3	144				
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:133948799A>T	ENST00000370784.4	+	2	516		c.e2-1		FAM122C_ENST00000445123.1_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338																																						ENST00000445123.1																			0				endometrium(2)|kidney(1)|lung(2)	5						c.e3-1		family with sequence similarity 122C							60.0	60.0	60.0					X																	133948799		2202	4300	6502	SO:0001630	splice_region_variant	159091							g.chrX:133948799A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.111-1A>T	X.37:g.133948799A>T			Somatic				FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370784.4_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			3	274	+	Acute lymphoblastic leukemia(192;0.000127)							F5H036|Q8WVK9	Splice_Site	SNP	ENST00000370784.4	37		CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	10.31	1.313542	0.23908	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7226	0.46048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM122C	133776465	1.000000	0.71417	0.663000	0.29738	0.151000	0.21798	4.668000	0.61568	1.800000	0.52685	0.466000	0.42574	.		0.338	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819	Intron	17	165	0	0	0	1	0	17	165				
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G	rs527413251		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001					ENST00000359568.5																			1	Substitution - coding silent(1)	p.P140P(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(418-420)ccA>ccG		pericentrin							180.0	120.0	140.0					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.420A>G	21.37:g.47754463A>G			Somatic				PCNT_ENST00000480896.1_3'UTR	p.P140P	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	379	0	0	0	1	0	4	379				
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2644-2646)caT>caA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							151.0	157.0	155.0					9																	32541877		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541877A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2646T>A	9.37:g.32541877A>T	ENSP00000353735:p.His882Gln		Somatic				TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	p.H882Q	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2762	-			882			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2646T>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244297	0.39697	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.91	4.76	0.60689	.	0.000000	0.49305	D	0.000157	T	0.09555	0.0235	L	0.29908	0.895	0.32113	N	0.589054	P	0.35272	0.493	B	0.28991	0.097	T	0.17561	-1.0365	10	0.24483	T	0.36	-15.314	5.0089	0.14302	0.6863:0.1565:0.1572:0.0	.	882	Q9NS56	TOPRS_HUMAN	Q	882;817	ENSP00000353735:H882Q;ENSP00000369187:H817Q	ENSP00000353735:H882Q	H	-	3	2	TOPORS	32531877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.101000	0.31037	1.058000	0.40530	0.528000	0.53228	CAT		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		8	230	0	0	0	1	0	8	230				
BRWD1	54014	broad.mit.edu	37	21	40568618	40568618	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:40568618A>T	ENST00000333229.2	-	41	6704	c.6377T>A	c.(6376-6378)gTa>gAa	p.V2126E	BRWD1_ENST00000380800.3_Missense_Mutation_p.V2126E|BRWD1_ENST00000342449.3_Missense_Mutation_p.V2126E	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2126					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCCTTTTTACTTCCTTCTC	0.403																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(6376-6378)gTa>gAa		bromodomain and WD repeat domain containing 1							168.0	161.0	164.0					21																	40568618		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40568618A>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6377T>A	21.37:g.40568618A>T	ENSP00000330753:p.Val2126Glu		Somatic				BRWD1_ENST00000380800.3_Missense_Mutation_p.V2126E|BRWD1_ENST00000333229.2_Missense_Mutation_p.V2126E	p.V2126E	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			41	6455	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2126					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6377T>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	A	1.877	-0.458733	0.04508	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56776	0.44;0.54;0.6	5.53	-0.123	0.13527	.	3.928800	0.00559	N	0.000265	T	0.35595	0.0937	L	0.32530	0.975	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.04103	-1.0977	10	0.10636	T	0.68	2.4325	0.8113	0.01093	0.2481:0.1119:0.2563:0.3837	.	2126;2126	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	E	2126	ENSP00000330753:V2126E;ENSP00000344333:V2126E;ENSP00000370178:V2126E	ENSP00000330753:V2126E	V	-	2	0	BRWD1	39490488	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.504000	0.06375	0.055000	0.16094	-0.290000	0.09829	GTA		0.403	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		6	180	0	0	0	1	0	6	180				
GDI2	2665	broad.mit.edu	37	10	5808591	5808591	+	Silent	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:5808591G>C	ENST00000380191.4	-	9	1292	c.1002C>G	c.(1000-1002)gtC>gtG	p.V334V	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Silent_p.V338V|GDI2_ENST00000380181.3_Silent_p.V289V	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	334					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AGATCATGCAGACGTAGATAT	0.453																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(1000-1002)gtC>gtG		GDP dissociation inhibitor 2							89.0	80.0	83.0					10																	5808591		2203	4300	6503	SO:0001819	synonymous_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5808591G>C	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1002C>G	10.37:g.5808591G>C			Somatic				GDI2_ENST00000380132.4_Silent_p.V338V|GDI2_ENST00000380181.3_Silent_p.V289V|GDI2_ENST00000479928.1_5'UTR	p.V334V	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	WXS	Illumina GAIIx	Phase_I	P50395	GDIB_HUMAN			9	1292	-			334					O43928|Q5SX88|Q9UQM6	Silent	SNP	ENST00000380191.4	37	c.1002C>G	CCDS7071.1																																																																																				0.453	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		10	120	0	0	0	1	0	10	120				
KIAA1841	84542	broad.mit.edu	37	2	61335450	61335450	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:61335450A>T	ENST00000402291.1	+	15	1852		c.e15-1		KIAA1841_ENST00000356719.2_Splice_Site|KIAA1841_ENST00000295031.5_Splice_Site|KIAA1841_ENST00000453873.1_Splice_Site	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841											breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCTGTCTTGTAGTTCTTGTCA	0.303																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.e15-1		KIAA1841							107.0	112.0	110.0					2																	61335450		2203	4298	6501	SO:0001630	splice_region_variant	84542							g.chr2:61335450A>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1612-1A>T	2.37:g.61335450A>T			Somatic				KIAA1841_ENST00000453873.1_Splice_Site|KIAA1841_ENST00000356719.2_Splice_Site|KIAA1841_ENST00000295031.5_Splice_Site		NM_001129993.1	NP_001123465.1	WXS	Illumina GAIIx	Phase_I	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		15	1852	+								Q49AF0|Q6ZND0|Q96JI6	Splice_Site	SNP	ENST00000402291.1	37		CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852380	0.71719	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5528	0.68078	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1841	61188954	1.000000	0.71417	0.958000	0.39756	0.765000	0.43378	7.263000	0.78421	2.178000	0.69098	0.459000	0.35465	.		0.303	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	Intron	5	87	0	0	0	1	0	5	87				
SLC4A8	9498	broad.mit.edu	37	12	51853894	51853894	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:51853894T>A	ENST00000453097.2	+	8	1230		c.e8+2		SLC4A8_ENST00000394856.1_Splice_Site|SLC4A8_ENST00000358657.3_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000535225.2_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCCAACAAGGTAAAGGCAAAG	0.383																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.e8+2		solute carrier family 4, sodium bicarbonate cotransporter, member 8							138.0	135.0	136.0					12																	51853894		2203	4300	6503	SO:0001630	splice_region_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51853894T>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1013+2T>A	12.37:g.51853894T>A			Somatic				SLC4A8_ENST00000535225.2_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site|SLC4A8_ENST00000358657.3_Splice_Site		NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	WXS	Illumina GAIIx	Phase_I	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	8	1230	+									Splice_Site	SNP	ENST00000453097.2	37		CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639555	0.87760	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6856	0.69047	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A8	50140161	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.994000	0.88315	2.183000	0.69458	0.533000	0.62120	.		0.383	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	Intron	7	518	0	0	0	1	0	7	518				
DYNC1H1	1778	broad.mit.edu	37	14	102516411	102516411	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr14:102516411T>G	ENST00000360184.4	+	77	13852	c.13688T>G	c.(13687-13689)tTg>tGg	p.L4563W	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4563					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCACAGGTTTGAAACTTCAA	0.587																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(13687-13689)tTg>tGg		dynein, cytoplasmic 1, heavy chain 1							73.0	69.0	70.0					14																	102516411		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102516411T>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13688T>G	14.37:g.102516411T>G	ENSP00000348965:p.Leu4563Trp		Somatic				RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.L4563W	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			77	13852	+			4563					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13688T>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574890	0.86542	.	.	ENSG00000197102	ENST00000360184	T	0.15372	2.43	5.42	5.42	0.78866	Dynein heavy chain (1);	0.000000	0.64402	D	0.000003	T	0.51295	0.1666	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63422	-0.6641	10	0.87932	D	0	.	15.4559	0.75314	0.0:0.0:0.0:1.0	.	4563	Q14204	DYHC1_HUMAN	W	4563	ENSP00000348965:L4563W	ENSP00000348965:L4563W	L	+	2	0	DYNC1H1	101586164	1.000000	0.71417	0.875000	0.34327	0.779000	0.44077	7.817000	0.86213	2.063000	0.61619	0.402000	0.26972	TTG		0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		110	170	0	0	0	1	0	110	170				
MRPS27	23107	broad.mit.edu	37	5	71591418	71591418	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:71591418T>A	ENST00000261413.5	-	4	262		c.e4-2		MRPS27_ENST00000522095.1_Splice_Site|MRPS27_ENST00000513900.1_Splice_Site|MRPS27_ENST00000457646.4_Splice_Site|MRPS27_ENST00000515404.1_Splice_Site	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27							mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GTCTATAAGCTAAAAGACAGA	0.358																																						ENST00000261413.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.e4-2		mitochondrial ribosomal protein S27							95.0	100.0	99.0					5																	71591418		2203	4300	6503	SO:0001630	splice_region_variant	23107					mitochondrion|ribosome		g.chr5:71591418T>A	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.223-2A>T	5.37:g.71591418T>A			Somatic				MRPS27_ENST00000522095.1_Splice_Site|MRPS27_ENST00000515404.1_Splice_Site|MRPS27_ENST00000513900.1_Splice_Site|MRPS27_ENST00000457646.4_Splice_Site		NM_015084.2	NP_055899.2	WXS	Illumina GAIIx	Phase_I	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	4	262	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)						B4DRT2|Q6P1S1	Splice_Site	SNP	ENST00000261413.5	37		CCDS4013.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925578	0.73213	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404;ENST00000522095	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9974	0.58654	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS27	71627174	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	5.727000	0.68523	2.254000	0.74563	0.460000	0.39030	.		0.358	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084	Intron	4	109	0	0	0	1	0	4	109				
POLR3B	55703	broad.mit.edu	37	12	106772092	106772092	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:106772092G>C	ENST00000228347.4	+	8	766	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	POLR3B_ENST00000539066.1_Missense_Mutation_p.E124Q	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	182					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.E182*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCTTATCCAAGAGCAGCTGTC	0.418																																						ENST00000228347.4																			1	Substitution - Nonsense(1)	p.E182*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(544-546)Gag>Cag		polymerase (RNA) III (DNA directed) polypeptide B							148.0	141.0	143.0					12																	106772092		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106772092G>C	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.544G>C	12.37:g.106772092G>C	ENSP00000228347:p.Glu182Gln		Somatic				POLR3B_ENST00000539066.1_Missense_Mutation_p.E124Q	p.E182Q	NM_018082.5	NP_060552.4	WXS	Illumina GAIIx	Phase_I	Q9NW08	RPC2_HUMAN			8	766	+			182					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.544G>C	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058319	0.93846	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.68025	-0.3;-0.3	5.73	5.73	0.89815	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.89434	0.6714	H	0.97874	4.095	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.92866	0.6310	10	0.87932	D	0	-13.7127	19.49	0.95047	0.0:0.0:1.0:0.0	.	182	Q9NW08	RPC2_HUMAN	Q	182;182;124	ENSP00000228347:E182Q;ENSP00000445721:E124Q	ENSP00000228347:E182Q	E	+	1	0	POLR3B	105296222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.703000	0.98714	2.704000	0.92352	0.650000	0.86243	GAG		0.418	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		25	122	0	0	0	1	0	25	122				
CFAP221	200373	broad.mit.edu	37	2	120388454	120388454	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:120388454G>T	ENST00000413369.3	+	19	2038	c.1951G>T	c.(1951-1953)Gat>Tat	p.D651Y	PCDP1_ENST00000602047.1_Missense_Mutation_p.D365Y	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					CATGTCTCTAGATTATGATCC	0.443																																						ENST00000602047.1																			0											c.(1093-1095)Gat>Tat									189.0	176.0	180.0					2																	120388454		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120388454G>T																												ENST00000413369.3:c.1951G>T	2.37:g.120388454G>T	ENSP00000393222:p.Asp651Tyr		Somatic				PCDP1_ENST00000413369.3_Missense_Mutation_p.D651Y	p.D365Y			WXS	Illumina GAIIx	Phase_I	Q4G0U5	PCDP1_HUMAN			20	2205	+	Colorectal(110;0.196)		651						Missense_Mutation	SNP	ENST00000413369.3	37	c.1093G>T	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.54|14.54	2.565389|2.565389	0.45694|0.45694	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000295220;ENST00000413369|ENST00000443972;ENST00000413057	T|.	0.33438|.	1.41|.	5.06|5.06	2.14|2.14	0.27477|0.27477	.|.	1.000500|.	0.08068|.	N|.	0.999452|.	T|.	0.22742|.	0.0549|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999999|0.999999	D;P|.	0.54964|.	0.969;0.955|.	P;P|.	0.51135|.	0.66;0.543|.	T|.	0.20240|.	-1.0281|.	10|.	0.72032|.	D|.	0.01|.	-3.4422|-3.4422	4.724|4.724	0.12933|0.12933	0.1847:0.0:0.6445:0.1708|0.1847:0.0:0.6445:0.1708	.|.	495;651|.	Q4G0U5-3;Q4G0U5|.	.;PCDP1_HUMAN|.	Y|Y	365;651|209;198	ENSP00000393222:D651Y|.	ENSP00000295220:D365Y|.	D|X	+|+	1|3	0|2	AC069154.2|AC069154.2	120104924|120104924	0.552000|0.552000	0.26505|0.26505	0.011000|0.011000	0.14972|0.14972	0.131000|0.131000	0.20780|0.20780	0.957000|0.957000	0.29215|0.29215	0.718000|0.718000	0.32166|0.32166	0.563000|0.563000	0.77884|0.77884	GAT|TAG		0.443	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			122	454	1	0	2.03726e-86	1	2.28388e-86	122	454				
MLC1	23209	broad.mit.edu	37	22	50518782	50518782	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr22:50518782G>T	ENST00000311597.5	-	4	918	c.312C>A	c.(310-312)aaC>aaA	p.N104K	MLC1_ENST00000395876.2_Missense_Mutation_p.N104K|MLC1_ENST00000431262.2_Missense_Mutation_p.N74K|MLC1_ENST00000538737.1_Missense_Mutation_p.N104K|MLC1_ENST00000535444.1_Missense_Mutation_p.N25K|MLC1_ENST00000450140.2_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	104					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCACATTGGCGTTCCTCCTGG	0.587																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(310-312)aaC>aaA		megalencephalic leukoencephalopathy with subcortical cysts 1							63.0	48.0	53.0					22																	50518782		2203	4300	6503	SO:0001583	missense	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50518782G>T	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.312C>A	22.37:g.50518782G>T	ENSP00000310375:p.Asn104Lys		Somatic				MLC1_ENST00000431262.2_Missense_Mutation_p.N74K|MLC1_ENST00000395876.2_Missense_Mutation_p.N104K|MLC1_ENST00000535444.1_Missense_Mutation_p.N25K|MLC1_ENST00000538737.1_Missense_Mutation_p.N104K|MLC1_ENST00000450140.2_Intron	p.N104K	NM_015166.3	NP_055981.1	WXS	Illumina GAIIx	Phase_I	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	4	918	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	104					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.312C>A	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	G	1.372	-0.585944	0.03827	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000442311	D;D;D;D;D;D	0.93426	-2.74;-2.74;-2.74;-2.75;-2.74;-3.22	5.34	-7.47	0.01365	.	0.241155	0.48286	N	0.000191	T	0.79545	0.4464	L	0.27053	0.805	0.09310	N	1	P;P;P	0.44690	0.785;0.673;0.841	B;B;B	0.41466	0.348;0.274;0.358	T	0.81420	-0.0941	10	0.08381	T	0.77	-36.7196	1.4848	0.02444	0.3915:0.0993:0.285:0.2242	.	104;74;104	F5H1B9;B7Z659;Q15049	.;.;MLC1_HUMAN	K	104;104;104;74;25;74	ENSP00000379216:N104K;ENSP00000310375:N104K;ENSP00000445805:N104K;ENSP00000415877:N74K;ENSP00000438910:N25K;ENSP00000401385:N74K	ENSP00000310375:N104K	N	-	3	2	MLC1	48860909	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.923000	0.04000	-1.344000	0.02216	-2.630000	0.00154	AAC		0.587	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		7	4	1	0	0.000274275	1	0.000286375	7	4				
SHPRH	257218	broad.mit.edu	37	6	146244777	146244777	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:146244777A>T	ENST00000367505.2	-	18	3810		c.e18+1		SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367503.3_Splice_Site|SHPRH_ENST00000438092.2_Splice_Site			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTTTTCTTACTTCTCTGAC	0.323																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.e18+1		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							148.0	132.0	137.0					6																	146244777		1817	4085	5902	SO:0001630	splice_region_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146244777A>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3545+1T>A	6.37:g.146244777A>T			Somatic				SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367505.2_Splice_Site|SHPRH_ENST00000438092.2_Splice_Site		NM_001042683.2	NP_001036148.2	WXS	Illumina GAIIx	Phase_I	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	18	3971	-		Ovarian(120;0.0365)						Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Splice_Site	SNP	ENST00000367505.2	37		CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265911	0.80358	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8753	0.70491	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHPRH	146286470	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.207000	0.95064	1.923000	0.55706	0.482000	0.46254	.		0.323	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	Intron	4	77	0	0	0	1	0	4	77				
BACE2	25825	broad.mit.edu	37	21	42598262	42598262	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr21:42598262A>T	ENST00000330333.6	+	2	845	c.382A>T	c.(382-384)Acg>Tcg	p.T128S	BACE2_ENST00000347667.5_Missense_Mutation_p.T128S|BACE2_ENST00000328735.6_Missense_Mutation_p.T128S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	128					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTACATAGACACGTACTTTGA	0.488																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(382-384)Acg>Tcg		beta-site APP-cleaving enzyme 2							103.0	96.0	98.0					21																	42598262		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42598262A>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.382A>T	21.37:g.42598262A>T	ENSP00000332979:p.Thr128Ser		Somatic				BACE2_ENST00000328735.6_Missense_Mutation_p.T128S|BACE2_ENST00000347667.4_Missense_Mutation_p.T128S	p.T128S	NM_012105.3	NP_036237.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Z0	BACE2_HUMAN			2	845	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	128					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.382A>T	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.977605	0.00452	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.40476	1.03;1.03;1.03	4.74	-6.91	0.01649	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.636280	0.16669	N	0.204425	T	0.12305	0.0299	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.29119	-1.0022	10	0.08381	T	0.77	.	7.7726	0.29017	0.639:0.0:0.1175:0.2435	.	128;128;128	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	S	128;128;128;33	ENSP00000332979:T128S;ENSP00000327528:T128S;ENSP00000333854:T128S	ENSP00000333854:T128S	T	+	1	0	BACE2	41520132	0.103000	0.21917	0.023000	0.16930	0.034000	0.12701	0.177000	0.16801	-1.645000	0.01515	-0.464000	0.05259	ACG		0.488	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			47	145	0	0	0	1	0	47	145				
CLEC6A	93978	broad.mit.edu	37	12	8629914	8629914	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:8629914A>T	ENST00000382073.3	+	6	671		c.e6-1			NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A						defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GTTTTCCTTTAGATTTTGGCA	0.403																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.e6-1		C-type lectin domain family 6, member A							144.0	135.0	138.0					12																	8629914		2203	4300	6503	SO:0001630	splice_region_variant	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8629914A>T	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.486-1A>T	12.37:g.8629914A>T			Somatic						NM_001007033.1	NP_001007034.1	WXS	Illumina GAIIx	Phase_I	Q6EIG7	CLC6A_HUMAN			6	671	+	Lung SC(5;0.184)							A2RUK3	Splice_Site	SNP	ENST00000382073.3	37		CCDS31739.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557091	0.27827	.	.	ENSG00000205846	ENST00000382073	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5056	0.33186	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLEC6A	8521181	0.771000	0.28555	0.729000	0.30791	0.042000	0.13812	1.237000	0.32695	1.784000	0.52394	0.533000	0.62120	.		0.403	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033	Intron	5	270	0	0	0	1	0	5	270				
PCDHGA3	56112	broad.mit.edu	37	5	140724196	140724196	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:140724196C>T	ENST00000253812.6	+	1	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	199	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A199V(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGCGGGCCCTGGACCGT	0.542																																						ENST00000253812.6																			1	Substitution - Missense(1)	p.A199V(1)	endometrium(1)	breast(1)	1						c.(595-597)gCc>gTc									55.0	58.0	57.0					5																	140724196		2117	4255	6372	SO:0001583	missense	56112							g.chr5:140724196C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.596C>T	5.37:g.140724196C>T	ENSP00000253812:p.Ala199Val		Somatic				PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A199V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	596	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.596C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	4.235	0.042492	0.08196	.	.	ENSG00000254245	ENST00000253812	T	0.20332	2.08	5.65	3.86	0.44501	Cadherin (3);Cadherin-like (1);	0.255401	0.19796	U	0.105879	T	0.19644	0.0472	L	0.60455	1.87	0.09310	N	1	B;B	0.25850	0.136;0.021	B;B	0.23852	0.049;0.033	T	0.12091	-1.0561	10	0.37606	T	0.19	.	7.7587	0.28940	0.1339:0.7231:0.0:0.143	.	199;199	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	199	ENSP00000253812:A199V	ENSP00000253812:A199V	A	+	2	0	PCDHGA3	140704380	0.001000	0.12720	0.079000	0.20413	0.035000	0.12851	1.502000	0.35704	1.533000	0.49186	-0.137000	0.14449	GCC		0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		36	139	0	0	0	1	0	36	139				
HEPHL1	341208	broad.mit.edu	37	11	93779079	93779079	+	Silent	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:93779079A>C	ENST00000315765.9	+	2	419	c.411A>C	c.(409-411)tcA>tcC	p.S137S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	137	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACAAAGATTCAGAAGGTAAAT	0.378																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(409-411)tcA>tcC		hephaestin-like 1							64.0	63.0	63.0					11																	93779079		1848	4098	5946	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93779079A>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.411A>C	11.37:g.93779079A>C			Somatic					p.S137S	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			2	419	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	137			Plastocyanin-like 1.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.411A>C	CCDS44710.1																																																																																				0.378	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		41	92	0	0	0	1	0	41	92				
DYNC1H1	1778	broad.mit.edu	37	14	102445654	102445654	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr14:102445654A>T	ENST00000360184.4	+	3	508		c.e3-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTTCTTTTTAGCTTGGCATT	0.358																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e3-1		dynein, cytoplasmic 1, heavy chain 1							67.0	71.0	70.0					14																	102445654		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102445654A>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.345-1A>T	14.37:g.102445654A>T			Somatic						NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			3	508	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37		CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653968	0.88056	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0993	0.81158	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101515407	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	8.930000	0.92872	2.207000	0.71202	0.459000	0.35465	.		0.358	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	5	112	0	0	0	1	0	5	112				
CLCN5	1184	broad.mit.edu	37	X	49840543	49840543	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:49840543A>G	ENST00000307367.2	+	4	590	c.299A>G	c.(298-300)cAt>cGt	p.H100R	CLCN5_ENST00000376091.3_Missense_Mutation_p.H170R|CLCN5_ENST00000376088.3_Missense_Mutation_p.H170R|CLCN5_ENST00000376108.3_Missense_Mutation_p.H100R			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	100					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AACCATGAACATTGTTGCTGG	0.428																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(508-510)cAt>cGt		chloride channel, voltage-sensitive 5							164.0	138.0	147.0					X																	49840543		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49840543A>G	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.299A>G	X.37:g.49840543A>G	ENSP00000304257:p.His100Arg		Somatic				CLCN5_ENST00000376091.3_Missense_Mutation_p.H170R|CLCN5_ENST00000307367.2_Missense_Mutation_p.H100R|CLCN5_ENST00000376108.3_Missense_Mutation_p.H100R	p.H170R	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	WXS	Illumina GAIIx	Phase_I	P51795	CLCN5_HUMAN			7	1150	+	Ovarian(276;0.236)		100					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.509A>G	CCDS14328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.78|15.78	2.933495|2.933495	0.52866|0.52866	.|.	.|.	ENSG00000171365|ENSG00000171365	ENST00000376088;ENST00000376091;ENST00000376108;ENST00000307367|ENST00000450422	D;D;D;D|.	0.88975|.	-2.45;-2.45;-2.44;-2.44|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Chloride channel, core (1);|.	0.047968|.	0.85682|.	D|.	0.000000|.	T|T	0.61874|0.61874	0.2382|0.2382	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	B;B|.	0.25667|.	0.004;0.131|.	B;B|.	0.22601|.	0.007;0.04|.	T|T	0.65676|0.65676	-0.6110|-0.6110	10|6	0.23302|0.87932	T|D	0.38|0	-6.0866|-6.0866	13.0076|13.0076	0.58715|0.58715	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	100;170|.	P51795;P51795-2|.	CLCN5_HUMAN;.|.	R|V	170;170;100;100|3	ENSP00000365256:H170R;ENSP00000365259:H170R;ENSP00000365276:H100R;ENSP00000304257:H100R|.	ENSP00000304257:H100R|ENSP00000400415:I3V	H|I	+|+	2|1	0|0	CLCN5|CLCN5	49727283|49727283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.185000|9.185000	0.94900|0.94900	1.780000|1.780000	0.52325|0.52325	0.430000|0.430000	0.28490|0.28490	CAT|ATT		0.428	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			8	357	0	0	0	1	0	8	357				
TUBB4A	10382	broad.mit.edu	37	19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R380L(1)									CTCGGAGATGCGCTTGAACAG	0.637																																						ENST00000264071.2																			1	Substitution - Missense(1)	p.R380L(1)	lung(1)								c.(1138-1140)cGc>cAc		tubulin, beta 4A class IVa							156.0	141.0	146.0					19																	6495371		2203	4298	6501	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495371C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1139G>A	19.37:g.6495371C>T	ENSP00000264071:p.Arg380His		Somatic				TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H	p.R380H			WXS	Illumina GAIIx	Phase_I	P04350	TBB4_HUMAN			4	1510	-			380					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1139G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189398	0.57909	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.83673	-1.75;-1.75	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.88187	0.6369	M	0.91818	3.245	0.58432	D	0.999991	P	0.48764	0.915	P	0.47118	0.538	D	0.91052	0.4879	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	380	P04350	TBB4A_HUMAN	H	380;380;298	ENSP00000264071:R380H;ENSP00000443590:R380H	ENSP00000264071:R380H	R	-	2	0	TUBB4	6446371	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.681000	0.84073	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		7	1170	0	0	0	1	0	7	1170				
IKZF1	10320	broad.mit.edu	37	7	50467916	50467916	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:50467916C>T	ENST00000331340.3	+	8	1306	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	IKZF1_ENST00000359197.5_Missense_Mutation_p.S342L|IKZF1_ENST00000439701.1_Missense_Mutation_p.S342L|IKZF1_ENST00000343574.5_Missense_Mutation_p.S297L|IKZF1_ENST00000346667.4_Missense_Mutation_p.S154L|IKZF1_ENST00000438033.1_Missense_Mutation_p.S297L|IKZF1_ENST00000349824.4_Missense_Mutation_p.S241L|IKZF1_ENST00000357364.4_Missense_Mutation_p.S297L|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	384					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.S384*(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TTGGTGCCCTCGGAGCGCGAG	0.667			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		29	Unknown(28)|Substitution - Nonsense(1)	p.?(28)|p.S384*(1)	haematopoietic_and_lymphoid_tissue(28)|lung(1)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1150-1152)tCg>tTg		IKAROS family zinc finger 1 (Ikaros)							16.0	21.0	19.0					7																	50467916		2068	4190	6258	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467916C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1151C>T	7.37:g.50467916C>T	ENSP00000331614:p.Ser384Leu		Somatic				IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.S154L|IKZF1_ENST00000439701.1_Missense_Mutation_p.S342L|IKZF1_ENST00000349824.4_Missense_Mutation_p.S241L|IKZF1_ENST00000438033.1_Missense_Mutation_p.S297L|IKZF1_ENST00000357364.4_Missense_Mutation_p.S297L|IKZF1_ENST00000343574.5_Missense_Mutation_p.S297L|IKZF1_ENST00000359197.5_Missense_Mutation_p.S342L	p.S384L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	WXS	Illumina GAIIx	Phase_I	Q13422	IKZF1_HUMAN			8	1306	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	384					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1151C>T		.	.	.	.	.	.	.	.	.	.	C	15.90	2.970725	0.53614	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.06849	4.63;3.25;3.31;4.36;3.42;3.32;3.25;3.31	5.65	5.65	0.86999	.	0.269693	0.43747	D	0.000533	T	0.17323	0.0416	.	.	.	0.80722	D	1	P;P;P;P;P	0.48589	0.833;0.912;0.903;0.903;0.743	P;B;P;P;B	0.46940	0.532;0.242;0.475;0.475;0.231	T	0.00133	-1.2010	9	0.62326	D	0.03	-18.7428	19.7107	0.96095	0.0:1.0:0.0:0.0	.	297;154;297;342;384	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	L	154;297;342;241;297;384;297;342	ENSP00000340080:S154L;ENSP00000342750:S297L;ENSP00000352123:S342L;ENSP00000342485:S241L;ENSP00000349928:S297L;ENSP00000331614:S384L;ENSP00000396554:S297L;ENSP00000413025:S342L	ENSP00000331614:S384L	S	+	2	0	IKZF1	50435410	0.999000	0.42202	0.066000	0.19879	0.753000	0.42808	4.589000	0.61006	2.659000	0.90383	0.585000	0.79938	TCG		0.667	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		11	43	0	0	0	1	0	11	43				
KIAA0232	9778	broad.mit.edu	37	4	6826207	6826207	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:6826207G>A	ENST00000307659.5	+	3	482	c.27G>A	c.(25-27)gtG>gtA	p.V9V	KIAA0232_ENST00000425103.1_Silent_p.V9V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	9							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAGTTGTTGTGGATGGTTTGC	0.453																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(25-27)gtG>gtA		KIAA0232							224.0	211.0	215.0					4																	6826207		1918	4133	6051	SO:0001819	synonymous_variant	9778						ATP binding	g.chr4:6826207G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.27G>A	4.37:g.6826207G>A			Somatic				KIAA0232_ENST00000425103.1_Silent_p.V9V	p.V9V	NM_014743.2	NP_055558.2	WXS	Illumina GAIIx	Phase_I	Q92628	K0232_HUMAN			3	482	+			9					A7E2D2	Silent	SNP	ENST00000307659.5	37	c.27G>A	CCDS43209.1																																																																																				0.453	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		4	265	0	0	0	1	0	4	265				
SRSF11	9295	broad.mit.edu	37	1	70694103	70694103	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:70694103A>T	ENST00000370950.3	+	3	285		c.e3-1		SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000454435.2_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000436161.2_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TTTATTTTTTAGTGATTCGCC	0.343																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.e3-1		serine/arginine-rich splicing factor 11							89.0	83.0	85.0					1																	70694103		2203	4300	6503	SO:0001630	splice_region_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70694103A>T	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.204-1A>T	1.37:g.70694103A>T			Somatic				SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000454435.2_Splice_Site|SRSF11_ENST00000436161.2_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q05519	SRS11_HUMAN			3	285	+								Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37		CCDS647.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765879	0.49574	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000454435;ENST00000395136;ENST00000436161	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3203	0.74117	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF11	70466691	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	9.339000	0.96797	2.040000	0.60383	0.460000	0.39030	.		0.343	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Intron	5	111	0	0	0	1	0	5	111				
CYP4F2	8529	broad.mit.edu	37	19	16003124	16003124	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:16003124T>C	ENST00000221700.6	-	5	615	c.520A>G	c.(520-522)Atg>Gtg	p.M174V	CYP4F2_ENST00000011989.7_Missense_Mutation_p.M25V	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCACGTGCATGATGTTCACA	0.502																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(520-522)Atg>Gtg		cytochrome P450, family 4, subfamily F, polypeptide 2							138.0	139.0	138.0					19																	16003124		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16003124T>C	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.520A>G	19.37:g.16003124T>C	ENSP00000221700:p.Met174Val		Somatic				CYP4F2_ENST00000592328.1_Missense_Mutation_p.M174V|CYP4F2_ENST00000011989.7_Missense_Mutation_p.M25V	p.M174V	NM_001082.3	NP_001073.3	WXS	Illumina GAIIx	Phase_I	P78329	CP4F2_HUMAN			5	615	-			174						Missense_Mutation	SNP	ENST00000221700.6	37	c.520A>G	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	t	14.56	2.571407	0.45798	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.68181	-0.31;-0.31	2.7	2.7	0.31948	.	0.128450	0.46758	U	0.000263	T	0.76285	0.3966	M	0.68952	2.095	0.37018	D	0.896055	D;D	0.61080	0.989;0.979	D;D	0.72075	0.976;0.956	T	0.80056	-0.1542	10	0.87932	D	0	.	8.8375	0.35121	0.0:0.0:0.0:1.0	.	25;174	B4DV75;P78329	.;CP4F2_HUMAN	V	174;25;25	ENSP00000221700:M174V;ENSP00000011989:M25V	ENSP00000011989:M25V	M	-	1	0	CYP4F2	15864124	1.000000	0.71417	0.883000	0.34634	0.341000	0.28922	2.653000	0.46691	1.218000	0.43458	0.240000	0.17902	ATG		0.502	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		4	548	0	0	0	1	0	4	548				
REST	5978	broad.mit.edu	37	4	57796304	57796304	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:57796304T>A	ENST00000309042.7	+	4	1594	c.1280T>A	c.(1279-1281)cTa>cAa	p.L427Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	427	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAGTGAAACTAAAGAAAACC	0.348																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1279-1281)cTa>cAa		RE1-silencing transcription factor							76.0	81.0	79.0					4																	57796304		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796304T>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1280T>A	4.37:g.57796304T>A	ENSP00000311816:p.Leu427Gln		Somatic					p.L427Q	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	WXS	Illumina GAIIx	Phase_I	Q13127	REST_HUMAN			4	1594	+	Glioma(25;0.08)|all_neural(26;0.181)		427			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1280T>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805894	0.70682	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.51071	0.72	5.8	5.8	0.92144	.	0.000000	0.50627	D	0.000103	T	0.65112	0.2660	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.67035	-0.5772	10	0.66056	D	0.02	-7.2771	15.8127	0.78576	0.0:0.0:0.0:1.0	.	404;427	F8WAN5;Q13127	.;REST_HUMAN	Q	427;427;404	ENSP00000311816:L427Q	ENSP00000311816:L427Q	L	+	2	0	REST	57491061	1.000000	0.71417	0.813000	0.32504	0.469000	0.32828	7.619000	0.83057	2.222000	0.72286	0.533000	0.62120	CTA		0.348	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		5	113	0	0	0	1	0	5	113				
GPR112	139378	broad.mit.edu	37	X	135405198	135405198	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:135405198G>A	ENST00000394143.1	+	5	623	c.332G>A	c.(331-333)cGt>cAt	p.R111H	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.R48H|GPR112_ENST00000370652.1_Missense_Mutation_p.R111H|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	111					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTATCCGTCACCACCTG	0.433																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(331-333)cGt>cAt		G protein-coupled receptor 112							177.0	159.0	165.0					X																	135405198		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405198G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.332G>A	X.37:g.135405198G>A	ENSP00000377699:p.Arg111His		Somatic				GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.R48H|GPR112_ENST00000370652.1_Missense_Mutation_p.R111H|GPR112_ENST00000394141.1_Intron	p.R111H	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			5	623	+	Acute lymphoblastic leukemia(192;0.000127)		111					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.332G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539240	0.13250	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.63255	-0.03;-0.03;-0.03	5.62	-10.1	0.00402	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.46483	0.1395	L	0.43152	1.355	0.09310	N	1	B	0.15930	0.015	B	0.06405	0.002	T	0.42464	-0.9450	9	0.59425	D	0.04	.	9.5035	0.39033	0.5617:0.2443:0.194:0.0	.	111	Q8IZF6	GP112_HUMAN	H	111;111;48	ENSP00000377699:R111H;ENSP00000359686:R111H;ENSP00000287534:R48H	ENSP00000287534:R48H	R	+	2	0	GPR112	135232864	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-1.913000	0.01580	-2.829000	0.00340	-0.312000	0.09012	CGT		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			8	876	0	0	0	1	0	8	876				
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(910-912)caT>caA		small nuclear ribonucleoprotein 48kDa (U11/U12)							81.0	79.0	79.0					6																	7606369		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7606369T>A	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.912T>A	6.37:g.7606369T>A	ENSP00000339834:p.His304Gln		Somatic					p.H304Q	NM_152551.3	NP_689764.3	WXS	Illumina GAIIx	Phase_I	Q6IEG0	SNR48_HUMAN			8	971	+			304			Arg-rich.		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.912T>A	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409395	0.42715	.	.	ENSG00000168566	ENST00000342415	T	0.30448	1.53	6.02	0.428	0.16499	.	0.415365	0.27749	N	0.018009	T	0.09686	0.0238	L	0.44542	1.39	0.26951	N	0.966026	B	0.28128	0.201	B	0.24701	0.055	T	0.20638	-1.0269	10	0.46703	T	0.11	-15.4244	9.6789	0.40059	0.0:0.492:0.0:0.508	.	304	Q6IEG0	SNR48_HUMAN	Q	304	ENSP00000339834:H304Q	ENSP00000339834:H304Q	H	+	3	2	SNRNP48	7551368	0.279000	0.24239	0.676000	0.29932	0.702000	0.40608	-0.569000	0.05902	-0.023000	0.13963	0.533000	0.62120	CAT		0.428	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		7	155	0	0	0	1	0	7	155				
MFSD6	54842	broad.mit.edu	37	2	191362295	191362295	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:191362295T>A	ENST00000392328.1	+	7	2346	c.2022T>A	c.(2020-2022)acT>acA	p.T674T	MFSD6_ENST00000281416.7_Silent_p.T674T|MFSD6_ENST00000535751.1_Silent_p.T136T	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	674					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CCAAGAAAACTAAGCACCAGG	0.493																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(2020-2022)acT>acA		major facilitator superfamily domain containing 6							164.0	139.0	148.0					2																	191362295		2203	4300	6503	SO:0001819	synonymous_variant	54842				transmembrane transport	integral to membrane		g.chr2:191362295T>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.2022T>A	2.37:g.191362295T>A			Somatic				MFSD6_ENST00000281416.7_Silent_p.T674T|MFSD6_ENST00000535751.1_Silent_p.T136T	p.T674T	NM_017694.3	NP_060164.3	WXS	Illumina GAIIx	Phase_I	Q6ZSS7	MFSD6_HUMAN			7	2346	+			674					D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	37	c.2022T>A	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245332	0.22796	.	.	ENSG00000151690	ENST00000434582	.	.	.	5.44	2.66	0.31614	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.936	1.45	0.02372	0.1404:0.4313:0.1361:0.2922	.	.	.	.	K	210	.	.	X	+	1	0	MFSD6	191070540	0.267000	0.24122	1.000000	0.80357	0.971000	0.66376	-0.397000	0.07269	0.368000	0.24481	-0.922000	0.02736	TAA		0.493	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			6	250	0	0	0	1	0	6	250				
SNX11	29916	broad.mit.edu	37	17	46198653	46198653	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:46198653A>C	ENST00000393405.2	+	8	950	c.596A>C	c.(595-597)gAa>gCa	p.E199A	SNX11_ENST00000359238.2_Missense_Mutation_p.E199A|SNX11_ENST00000582104.1_Missense_Mutation_p.E191A|SNX11_ENST00000580219.1_Missense_Mutation_p.E191A|SNX11_ENST00000452859.2_Missense_Mutation_p.E55A|SNX11_ENST00000439357.2_Missense_Mutation_p.E138A	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	199					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CCTCCCAGTGAAGAAAAGGAC	0.507																																						ENST00000393405.2																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						c.(595-597)gAa>gCa		sorting nexin 11							138.0	134.0	136.0					17																	46198653		2203	4300	6503	SO:0001583	missense	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46198653A>C	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.596A>C	17.37:g.46198653A>C	ENSP00000377059:p.Glu199Ala		Somatic				SNX11_ENST00000452859.2_Missense_Mutation_p.E55A|SNX11_ENST00000582104.1_Missense_Mutation_p.E191A|SNX11_ENST00000580219.1_Missense_Mutation_p.E191A|SNX11_ENST00000439357.2_Missense_Mutation_p.E138A|SNX11_ENST00000359238.2_Missense_Mutation_p.E199A	p.E199A	NM_152244.1	NP_689450.1	WXS	Illumina GAIIx	Phase_I	Q9Y5W9	SNX11_HUMAN			8	950	+			199					B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	ENST00000393405.2	37	c.596A>C	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.558725	0.45590	.	.	ENSG00000002919	ENST00000452859;ENST00000393405;ENST00000439357;ENST00000359238	T;T	0.66638	-0.22;-0.22	6.16	5.07	0.68467	.	0.124188	0.52532	D	0.000063	T	0.59676	0.2211	L	0.50333	1.59	0.41362	D	0.987434	B;B;B	0.17667	0.023;0.023;0.013	B;B;B	0.12156	0.007;0.007;0.005	T	0.56601	-0.7952	10	0.49607	T	0.09	-11.6932	10.4097	0.44285	0.8359:0.1641:0.0:0.0	.	138;191;199	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	A	55;199;138;199	ENSP00000377059:E199A;ENSP00000352175:E199A	ENSP00000352175:E199A	E	+	2	0	SNX11	43553652	1.000000	0.71417	0.997000	0.53966	0.630000	0.37929	2.756000	0.47549	1.117000	0.41842	0.528000	0.53228	GAA		0.507	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1			28	271	0	0	0	1	0	28	271				
COL12A1	1303	broad.mit.edu	37	6	75827250	75827250	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:75827250A>T	ENST00000322507.8	-	47	7676	c.7367T>A	c.(7366-7368)tTt>tAt	p.F2456Y	COL12A1_ENST00000416123.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1292Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2456	Nonhelical region (NC3).|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCAACTACAAAGACACTGAA	0.393																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7366-7368)tTt>tAt		collagen, type XII, alpha 1							100.0	99.0	99.0					6																	75827250		1985	4166	6151	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75827250A>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7367T>A	6.37:g.75827250A>T	ENSP00000325146:p.Phe2456Tyr		Somatic				COL12A1_ENST00000483888.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1292Y	p.F2456Y	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	Q99715	COCA1_HUMAN			47	7676	-			2456			Nonhelical region (NC3).|VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.7367T>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.922469	0.92319	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.91	5.91	0.95273	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88340	0.6410	L	0.49571	1.57	0.52099	D	0.999949	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.88575	0.3132	10	0.48119	T	0.1	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1292;2456	Q99715-2;Q99715	.;COCA1_HUMAN	Y	2456;94;2456;1292;2456;2456;10	ENSP00000325146:F2456Y;ENSP00000399812:F94Y;ENSP00000305147:F1292Y;ENSP00000412864:F2456Y;ENSP00000421216:F2456Y;ENSP00000423423:F10Y	ENSP00000325146:F2456Y	F	-	2	0	COL12A1	75883970	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	TTT		0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		35	84	0	0	0	1	0	35	84				
KIAA1161	57462	broad.mit.edu	37	9	34371724	34371724	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:34371724C>T	ENST00000297625.7	-	2	1341	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	406					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTCGCGCTCCACGCCCTCGC	0.677																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(1114-1116)gtG>gtA		KIAA1161							24.0	28.0	26.0					9																	34371724		2034	4157	6191	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371724C>T	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1116G>A	9.37:g.34371724C>T			Somatic					p.V372V	NM_020702.3	NP_065753.2	WXS	Illumina GAIIx	Phase_I	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1341	-			406					Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.1116G>A																																																																																					0.677	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		12	22	0	0	0	1	0	12	22				
KIAA1407	57577	broad.mit.edu	37	3	113724672	113724672	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:113724672A>T	ENST00000295878.3	-	10	1697	c.1551T>A	c.(1549-1551)aaT>aaA	p.N517K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	517										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGTGCTGCTTATTGCCAGGTG	0.542																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1549-1551)aaT>aaA		KIAA1407							167.0	168.0	168.0					3																	113724672		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113724672A>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1551T>A	3.37:g.113724672A>T	ENSP00000295878:p.Asn517Lys		Somatic				KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348K	p.N517K	NM_020817.1	NP_065868.1	WXS	Illumina GAIIx	Phase_I	Q8NCU4	K1407_HUMAN			10	1697	-			517					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1551T>A	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	A	1.489	-0.555263	0.03967	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.41758	1.56;0.99;1.01	5.23	-1.74	0.08056	.	1.331770	0.04563	N	0.391973	T	0.25419	0.0618	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.11591	-1.0581	10	0.06494	T	0.89	.	2.5772	0.04809	0.2405:0.4569:0.1735:0.1291	.	504;393;517	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	K	517;348;504	ENSP00000295878:N517K;ENSP00000446381:N348K;ENSP00000418099:N504K	ENSP00000295878:N517K	N	-	3	2	KIAA1407	115207362	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.828000	0.04419	-0.442000	0.07190	-0.313000	0.08912	AAT		0.542	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		6	332	0	0	0	1	0	6	332				
STAG3	10734	broad.mit.edu	37	7	99801731	99801731	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:99801731C>T	ENST00000426455.1	+	26	3195	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	STAG3_ENST00000394018.2_Silent_p.L872L|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Silent_p.L930L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	930					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCTGCTGCTGAGCCTCAA	0.498																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2788-2790)Ctg>Ttg		stromal antigen 3							139.0	111.0	121.0					7																	99801731		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99801731C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2788C>T	7.37:g.99801731C>T			Somatic				STAG3_ENST00000317296.5_Silent_p.L930L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Silent_p.L872L	p.L930L			WXS	Illumina GAIIx	Phase_I	Q9UJ98	STAG3_HUMAN			26	3195	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		930					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.2788C>T	CCDS34703.1																																																																																				0.498	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		88	226	0	0	0	1	0	88	226				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys		Somatic				NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	116	0	0	0	1	0	7	116				
PNO1	56902	broad.mit.edu	37	2	68389676	68389676	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:68389676A>T	ENST00000263657.2	+	5	593		c.e5-1		RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)							nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TTTCTTGTTTAGTTAAACCCC	0.403																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.e5-1		partner of NOB1 homolog (S. cerevisiae)							54.0	54.0	54.0					2																	68389676		2203	4300	6503	SO:0001630	splice_region_variant	56902					nucleolus	RNA binding	g.chr2:68389676A>T	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.503-1A>T	2.37:g.68389676A>T			Somatic						NM_020143.2	NP_064528.1	WXS	Illumina GAIIx	Phase_I	Q9NRX1	PNO1_HUMAN			5	593	+								A8K6Q0|Q53G13|Q8WVB8	Splice_Site	SNP	ENST00000263657.2	37		CCDS1885.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900827	0.33535	.	.	ENSG00000115946	ENST00000263657	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8008	0.23750	0.666:0.1316:0.0:0.2024	.	.	.	.	.	-1	.	.	.	+	.	.	PNO1	68243180	1.000000	0.71417	0.964000	0.40570	0.562000	0.35680	9.050000	0.93843	1.933000	0.56026	0.528000	0.53228	.		0.403	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143	Intron	4	91	0	0	0	1	0	4	91				
POLA1	5422	broad.mit.edu	37	X	24745112	24745112	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:24745112C>A	ENST00000379059.3	+	14	1452	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Silent_p.T485T	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	479					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TATTTGGGACCAACACATCTA	0.358																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(1453-1455)acC>acA		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						71.0	65.0	67.0					X																	24745112		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24745112C>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1437C>A	X.37:g.24745112C>A			Somatic				POLA1_ENST00000379059.3_Silent_p.T479T|POLA1_ENST00000493342.1_3'UTR	p.T485T			WXS	Illumina GAIIx	Phase_I	P09884	DPOLA_HUMAN			14	1498	+			479					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.1455C>A	CCDS14214.1																																																																																				0.358	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		5	80	1	0	0.307466	1	0.31038	5	80				
DRP2	1821	broad.mit.edu	37	X	100515603	100515603	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:100515603C>T	ENST00000395209.3	+	24	3394	c.2867C>T	c.(2866-2868)gCc>gTc	p.A956V	DRP2_ENST00000402866.1_Missense_Mutation_p.A956V|DRP2_ENST00000541709.1_Missense_Mutation_p.A878V|DRP2_ENST00000538510.1_Missense_Mutation_p.A956V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	956					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACCCTGCTGGCCTCTTGATGG	0.537																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2866-2868)gCc>gTc		dystrophin related protein 2							220.0	177.0	192.0					X																	100515603		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100515603C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2867C>T	X.37:g.100515603C>T	ENSP00000378635:p.Ala956Val		Somatic				DRP2_ENST00000538510.1_Missense_Mutation_p.A956V|DRP2_ENST00000541709.1_Missense_Mutation_p.A878V|DRP2_ENST00000402866.1_Missense_Mutation_p.A956V	p.A956V	NM_001939.2	NP_001930.2	WXS	Illumina GAIIx	Phase_I	Q13474	DRP2_HUMAN			24	3394	+			956					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2867C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381454	0.82792	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.06608	3.34;3.34;3.28;3.34	5.05	5.05	0.67936	.	0.212364	0.40908	D	0.000995	T	0.06416	0.0165	L	0.33485	1.01	0.36949	D	0.892761	B	0.34103	0.437	B	0.26094	0.066	T	0.26950	-1.0088	10	0.87932	D	0	-10.2957	15.7836	0.78286	0.0:1.0:0.0:0.0	.	956	Q13474	DRP2_HUMAN	V	956;956;878;956	ENSP00000385038:A956V;ENSP00000378635:A956V;ENSP00000444752:A878V;ENSP00000441051:A956V	ENSP00000378635:A956V	A	+	2	0	DRP2	100402259	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.811000	0.47986	2.086000	0.62901	0.436000	0.28706	GCC		0.537	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		10	1177	0	0	0	1	0	10	1177				
IPO11	51194	broad.mit.edu	37	5	61846192	61846192	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:61846192A>T	ENST00000325324.6	+	25	2419		c.e25-1		IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11						ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTGGTTTTTAGGTTGTGGAA	0.348																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.e25-1		importin 11							124.0	119.0	121.0					5																	61846192		2203	4299	6502	SO:0001630	splice_region_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61846192A>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2251-1A>T	5.37:g.61846192A>T			Somatic				IPO11_ENST00000409296.3_Splice_Site		NM_016338.4	NP_057422.3	WXS	Illumina GAIIx	Phase_I	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	25	2419	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)						A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Splice_Site	SNP	ENST00000325324.6	37		CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273101	0.80580	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553;ENST00000511713	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1999	0.73126	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO11	61881949	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.268000	0.89876	2.088000	0.63022	0.528000	0.53228	.		0.348	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	Intron	4	58	0	0	0	1	0	4	58				
LRP6	4040	broad.mit.edu	37	12	12278312	12278312	+	Missense_Mutation	SNP	C	C	T	rs367658176		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:12278312C>T	ENST00000261349.4	-	21	4443	c.4367G>A	c.(4366-4368)aGt>aAt	p.S1456N	LRP6_ENST00000543091.1_Missense_Mutation_p.S1411N|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1456					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGGGGGTCCACTGCTTCCCCC	0.433																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4366-4368)aGt>aAt		low density lipoprotein receptor-related protein 6							111.0	92.0	99.0					12																	12278312		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12278312C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4367G>A	12.37:g.12278312C>T	ENSP00000261349:p.Ser1456Asn		Somatic				LRP6_ENST00000543091.1_Missense_Mutation_p.S1411N|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	p.S1456N	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			21	4443	-		Prostate(47;0.0865)	1456					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4367G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072612	0.76415	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	T;T	0.50001	0.76;0.76	6.03	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.59293	0.2183	L	0.45137	1.4	0.80722	D	1	D;P	0.61080	0.989;0.615	D;B	0.72982	0.979;0.347	T	0.49579	-0.8925	10	0.26408	T	0.33	.	15.7129	0.77644	0.0:0.9337:0.0:0.0663	.	1411;1456	F5H7J9;O75581	.;LRP6_HUMAN	N	1456;1411	ENSP00000261349:S1456N;ENSP00000442472:S1411N	ENSP00000261349:S1456N	S	-	2	0	LRP6	12169579	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.691000	0.68249	2.861000	0.98227	0.655000	0.94253	AGT		0.433	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			21	197	0	0	0	1	0	21	197				
ERICH6	131831	broad.mit.edu	37	3	150398270	150398270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:150398270G>T	ENST00000295910.6	-	9	1148	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	FAM194A_ENST00000491361.1_Missense_Mutation_p.H220N	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAGAGAAATGAGTCTGTTCC	0.383																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1096-1098)Cat>Aat		family with sequence similarity 194, member A							206.0	184.0	192.0					3																	150398270		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150398270G>T																												ENST00000295910.6:c.1096C>A	3.37:g.150398270G>T	ENSP00000295910:p.His366Asn		Somatic				FAM194A_ENST00000491361.1_Missense_Mutation_p.H220N	p.H366N	NM_152394.3	NP_689607.2	WXS	Illumina GAIIx	Phase_I	Q7L0X2	F194A_HUMAN			9	1148	-			366						Missense_Mutation	SNP	ENST00000295910.6	37	c.1096C>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.575892	0.00887	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.12361	2.89;2.69	3.8	1.4	0.22301	.	2.083720	0.02116	N	0.055204	T	0.05731	0.0150	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31024	-0.9958	10	0.23302	T	0.38	-0.0015	8.235	0.31620	0.0:0.0:0.4332:0.5668	.	366	Q7L0X2	F194A_HUMAN	N	366;220;324	ENSP00000295910:H366N;ENSP00000419366:H220N	ENSP00000295910:H366N	H	-	1	0	FAM194A	151880960	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	0.297000	0.22615	-0.457000	0.05445	CAT		0.383	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			71	241	1	0	1.84514e-49	1	2.05767e-49	71	241				
ERVW-1	30816	broad.mit.edu	37	7	92098577	92098577	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:92098577G>T	ENST00000493463.2	-	1	2042	c.1119C>A	c.(1117-1119)aaC>aaA	p.N373K	ERVW-1_ENST00000603053.1_Missense_Mutation_p.N373K|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	373					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						ctgctagggagttaagttgat	0.448																																						ENST00000493463.2																			0				endometrium(1)|large_intestine(1)|lung(15)	17						c.(1117-1119)aaC>aaA									26.0	26.0	26.0					7																	92098577		2193	4288	6481	SO:0001583	missense	30816				syncytium formation	integral to membrane|plasma membrane|virion		g.chr7:92098577G>T	AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1119C>A	7.37:g.92098577G>T	ENSP00000419945:p.Asn373Lys		Somatic				ERVW-1_ENST00000603053.1_Missense_Mutation_p.N373K|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	p.N373K	NM_014590.3	NP_055405.3	WXS	Illumina GAIIx	Phase_I	Q9UQF0	ENW1_HUMAN			1	2042	-			373					B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	ENST00000493463.2	37	c.1119C>A	CCDS5626.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369430	0.42003	.	.	ENSG00000242950	ENST00000493463	T	0.30448	1.53	0.0465	0.0465	0.14256	.	0.983709	0.08209	U	0.981110	T	0.28532	0.0706	L	0.39898	1.24	0.09310	N	0.999999	.	.	.	.	.	.	T	0.38950	-0.9637	7	0.72032	D	0.01	.	.	.	.	.	.	.	.	K	373	ENSP00000419945:N373K	ENSP00000419945:N373K	N	-	3	2	ERVW-1	91936513	0.691000	0.27709	0.488000	0.27440	0.491000	0.33493	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	AAC		0.448	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254009.2	NM_014590		22	67	1	0	3.8784e-16	1	4.17222e-16	22	67				
FAM120B	84498	broad.mit.edu	37	6	170627090	170627090	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:170627090C>T	ENST00000476287.1	+	2	720	c.612C>T	c.(610-612)gtC>gtT	p.V204V	FAM120B_ENST00000537664.1_Silent_p.V227V|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Silent_p.V216V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	204					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGGACACCGTCATGCTCTGCA	0.532																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(610-612)gtC>gtT		family with sequence similarity 120B							74.0	77.0	76.0					6																	170627090		2203	4300	6503	SO:0001819	synonymous_variant	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627090C>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.612C>T	6.37:g.170627090C>T			Somatic				FAM120B_ENST00000540480.1_Silent_p.V216V|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Silent_p.V227V	p.V204V	NM_032448.1	NP_115824.1	WXS	Illumina GAIIx	Phase_I	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	720	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	204					B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	c.612C>T	CCDS5314.1																																																																																				0.532	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		34	80	0	0	0	1	0	34	80				
CNOT6	57472	broad.mit.edu	37	5	179994847	179994847	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:179994847A>T	ENST00000393356.1	+	11	1296		c.e11-1		CNOT6_ENST00000261951.4_Splice_Site			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTGTTTTAGATTTACTTT	0.403																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.e11-1		CCR4-NOT transcription complex, subunit 6							95.0	96.0	95.0					5																	179994847		2203	4300	6503	SO:0001630	splice_region_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179994847A>T	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.873-1A>T	5.37:g.179994847A>T			Somatic				CNOT6_ENST00000261951.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	11	1296	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)						A7MD46|D3DWR0	Splice_Site	SNP	ENST00000393356.1	37		CCDS4455.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404986	0.83230	.	.	ENSG00000113300	ENST00000261951;ENST00000393356;ENST00000504343	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8895	0.79286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT6	179927453	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.207000	0.71202	0.533000	0.62120	.		0.403	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455	Intron	5	127	0	0	0	1	0	5	127				
PMS2	5395	broad.mit.edu	37	7	6029494	6029494	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:6029494C>G	ENST00000265849.7	-	10	1186	c.1081G>C	c.(1081-1083)Gga>Cga	p.G361R	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G361R|PMS2_ENST00000441476.2_Missense_Mutation_p.G255R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	361					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAAACATTCCTATCAAAGAG	0.373			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1081-1083)Gga>Cga	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							118.0	112.0	114.0					7																	6029494		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6029494C>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1081G>C	7.37:g.6029494C>G	ENSP00000265849:p.Gly361Arg		Somatic				PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.G255R|PMS2_ENST00000406569.3_Missense_Mutation_p.G361R	p.G361R	NM_000535.5	NP_000526.1	WXS	Illumina GAIIx	Phase_I	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	10	1186	-		Ovarian(82;0.0694)	361					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1081G>C	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	17.99	3.522742	0.64747	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;T	0.80738	-1.41;-1.41;-1.41	5.73	4.85	0.62838	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.635714	0.16912	N	0.194450	T	0.80248	0.4588	N	0.25485	0.75	0.34739	D	0.730541	B;D;D	0.61080	0.197;0.989;0.966	B;B;P	0.58780	0.044;0.402;0.845	T	0.80752	-0.1242	10	0.21540	T	0.41	-1.9642	14.5361	0.67960	0.0:0.9301:0.0:0.0699	.	361;361;255	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	R	361;314;255;361	ENSP00000265849:G361R;ENSP00000392843:G255R;ENSP00000384308:G361R	ENSP00000265849:G361R	G	-	1	0	PMS2	5996020	0.374000	0.25081	0.986000	0.45419	0.995000	0.86356	1.783000	0.38664	1.440000	0.47531	0.650000	0.86243	GGA		0.373	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		33	113	0	0	0	1	0	33	113				
ASNSD1	54529	broad.mit.edu	37	2	190531591	190531591	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:190531591A>T	ENST00000260952.4	+	4	1146	c.733A>T	c.(733-735)Aat>Tat	p.N245Y	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	245					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTTCCTTTAAATATGATGTT	0.378																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(733-735)Aat>Tat		asparagine synthetase domain containing 1							80.0	86.0	84.0					2																	190531591		2201	4298	6499	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531591A>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.733A>T	2.37:g.190531591A>T	ENSP00000260952:p.Asn245Tyr		Somatic				ASNSD1_ENST00000607062.1_Intron	p.N245Y	NM_019048.2	NP_061921.1	WXS	Illumina GAIIx	Phase_I	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1146	+			245					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.733A>T	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.105504	0.77096	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.32753	1.44;1.45	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59888	-0.7369	10	0.62326	D	0.03	-11.5971	16.8222	0.85835	1.0:0.0:0.0:0.0	.	245	Q9NWL6	ASND1_HUMAN	Y	245	ENSP00000260952:N245Y;ENSP00000406790:N245Y	ENSP00000260952:N245Y	N	+	1	0	ASNSD1	190239836	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	8.879000	0.92398	2.371000	0.80710	0.533000	0.62120	AAT		0.378	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		5	244	0	0	0	1	0	5	244				
E2F8	79733	broad.mit.edu	37	11	19259497	19259497	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:19259497G>A	ENST00000527884.1	-	3	430	c.198C>T	c.(196-198)ctC>ctT	p.L66L	E2F8_ENST00000250024.4_Silent_p.L66L|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	66					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCACTGATGAGCATTTTCA	0.517																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(196-198)ctC>ctT		E2F transcription factor 8							190.0	194.0	193.0					11																	19259497		2199	4293	6492	SO:0001819	synonymous_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19259497G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.198C>T	11.37:g.19259497G>A			Somatic				RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L66L	p.L66L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			3	430	-			66					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	c.198C>T	CCDS7849.1																																																																																				0.517	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		29	299	0	0	0	1	0	29	299				
CFAP70	118491	broad.mit.edu	37	10	75037003	75037003	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:75037003C>G	ENST00000310715.3	-	22	2845	c.2725G>C	c.(2725-2727)Gtg>Ctg	p.V909L	DNAJC9-AS1_ENST00000440197.2_RNA|RNU6-833P_ENST00000363486.1_RNA|TTC18_ENST00000401621.2_Missense_Mutation_p.V909L|TTC18_ENST00000355577.3_Missense_Mutation_p.V378L|TTC18_ENST00000394865.1_Missense_Mutation_p.V909L|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		909						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGACCTGCACAGCCTTGACT	0.393																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2725-2727)Gtg>Ctg		tetratricopeptide repeat domain 18							124.0	119.0	121.0					10																	75037003		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75037003C>G																												ENST00000310715.3:c.2725G>C	10.37:g.75037003C>G	ENSP00000310829:p.Val909Leu		Somatic				TTC18_ENST00000355577.3_Missense_Mutation_p.V378L|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.V909L|TTC18_ENST00000394865.1_Missense_Mutation_p.V909L|TTC18_ENST00000493787.1_Intron	p.V909L	NM_145170.3	NP_660153.3	WXS	Illumina GAIIx	Phase_I	Q5T0N1	TTC18_HUMAN			22	2845	-	Prostate(51;0.0119)		909					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2725G>C	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412021	0.25465	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.29917	1.94;1.94;1.56;1.55	5.77	4.86	0.63082	.	0.188298	0.38837	N	0.001553	T	0.20536	0.0494	L	0.38838	1.175	0.31938	N	0.611326	B	0.18461	0.028	B	0.14023	0.01	T	0.12811	-1.0533	10	0.07175	T	0.84	-14.5753	11.1054	0.48199	0.0:0.9133:0.0:0.0867	.	909	Q5T0N1	TTC18_HUMAN	L	909;909;909;316;909	ENSP00000310829:V909L;ENSP00000384479:V909L;ENSP00000409527:V316L;ENSP00000378334:V909L	ENSP00000310829:V909L	V	-	1	0	TTC18	74707009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.177000	0.31969	2.723000	0.93209	0.655000	0.94253	GTG		0.393	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	121	0	0	0	1	0	3	121				
ST8SIA2	8128	broad.mit.edu	37	15	93007593	93007593	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:93007593G>A	ENST00000268164.3	+	6	1343	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G348D	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	369					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTGACTGTCGGCCAGTGCGAT	0.602																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1105-1107)gGc>gAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							79.0	76.0	77.0					15																	93007593		2198	4298	6496	SO:0001583	missense	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007593G>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1106G>A	15.37:g.93007593G>A	ENSP00000268164:p.Gly369Asp		Somatic				ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G348D	p.G369D	NM_006011.3	NP_006002.1	WXS	Illumina GAIIx	Phase_I	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1343	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		369					Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.1106G>A	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505078	0.44558	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.34275	1.37;1.37;1.37	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.33624	1.015	0.80722	D	1	B;B	0.28713	0.092;0.22	B;B	0.33392	0.096;0.163	T	0.07693	-1.0759	10	0.39692	T	0.17	-14.8009	19.6223	0.95663	0.0:0.0:1.0:0.0	.	348;369	C6G488;Q92186	.;SIA8B_HUMAN	D	369;348;326	ENSP00000268164:G369D;ENSP00000437382:G348D;ENSP00000450851:G326D	ENSP00000268164:G369D	G	+	2	0	ST8SIA2	90808597	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.907000	0.69908	2.635000	0.89317	0.650000	0.86243	GGC		0.602	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		5	530	0	0	0	1	0	5	530				
PRAMEF2	65122	broad.mit.edu	37	1	12921210	12921210	+	Missense_Mutation	SNP	G	G	A	rs141943881	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:12921210G>A	ENST00000240189.2	+	4	1088	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	334					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTTCCGCATCAGTCTT	0.507													.|||	3	0.000599042	0.0	0.0	5008	,	,		22717	0.001		0.002	False		,,,				2504	0.0					ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1000-1002)cGc>cAc		PRAME family member 2		G	HIS/ARG	0,4404		0,0,2202	182.0	182.0	182.0		1001	-1.1	0.0	1	dbSNP_134	182	12,8576	9.1+/-34.3	0,12,4282	no	missense	PRAMEF2	NM_023014.1	29	0,12,6484	AA,AG,GG		0.1397,0.0,0.0924	probably-damaging	334/475	12921210	12,12980	2202	4294	6496	SO:0001583	missense	65122							g.chr1:12921210G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1001G>A	1.37:g.12921210G>A	ENSP00000240189:p.Arg334His		Somatic					p.R334H	NM_023014.1	NP_075390.1	WXS	Illumina GAIIx	Phase_I	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1088	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	334						Missense_Mutation	SNP	ENST00000240189.2	37	c.1001G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.106279	0.01828	0.0	0.001397	ENSG00000120952	ENST00000240189	T	0.00940	5.52	0.766	-1.08	0.09936	.	4.154090	0.00851	N	0.001827	T	0.00524	0.0017	N	0.02315	-0.6	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.45308	-0.9270	10	0.13853	T	0.58	.	3.048	0.06160	0.6485:0.0:0.3515:0.0	.	334	O60811	PRAM2_HUMAN	H	334	ENSP00000240189:R334H	ENSP00000240189:R334H	R	+	2	0	PRAMEF2	12843797	0.000000	0.05858	0.001000	0.08648	0.159000	0.22180	-0.130000	0.10498	-0.263000	0.09378	0.089000	0.15464	CGC		0.507	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		6	969	0	0	0	1	0	6	969				
CNTN1	1272	broad.mit.edu	37	12	41337962	41337962	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:41337962G>T	ENST00000551295.2	+	14	1790	c.1673G>T	c.(1672-1674)aGg>aTg	p.R558M	CNTN1_ENST00000547702.1_Missense_Mutation_p.R558M|CNTN1_ENST00000360099.3_Missense_Mutation_p.R558M|CNTN1_ENST00000547849.1_Missense_Mutation_p.R558M|CNTN1_ENST00000348761.2_Missense_Mutation_p.R547M|CNTN1_ENST00000347616.1_Missense_Mutation_p.R558M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	558	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CACTACCAGAGGAATTTTATG	0.358																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1672-1674)aGg>aTg		contactin 1							82.0	74.0	76.0					12																	41337962		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337962G>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1673G>T	12.37:g.41337962G>T	ENSP00000447006:p.Arg558Met		Somatic				CNTN1_ENST00000547849.1_Missense_Mutation_p.R558M|CNTN1_ENST00000348761.2_Missense_Mutation_p.R547M|CNTN1_ENST00000547702.1_Missense_Mutation_p.R558M|CNTN1_ENST00000347616.1_Missense_Mutation_p.R558M|CNTN1_ENST00000360099.3_Missense_Mutation_p.R558M	p.R558M	NM_001843.3	NP_001834.2	WXS	Illumina GAIIx	Phase_I	Q12860	CNTN1_HUMAN			14	1790	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	558			Ig-like C2-type 6.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1673G>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918946	0.73098	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	5.0	4.1	0.47936	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055206	0.64402	N	0.000001	T	0.58148	0.2102	M	0.82823	2.61	0.46927	D	0.999258	B;D;D	0.89917	0.403;1.0;1.0	P;D;D	0.79108	0.725;0.986;0.992	T	0.65516	-0.6149	10	0.56958	D	0.05	.	15.1443	0.72637	0.0:0.0:0.8575:0.1425	.	558;547;558	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	M	558;558;558;558;558;547	ENSP00000448004:R558M;ENSP00000447006:R558M;ENSP00000448653:R558M;ENSP00000325660:R558M;ENSP00000353213:R558M;ENSP00000261160:R547M	ENSP00000325660:R558M	R	+	2	0	CNTN1	39624229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.685000	0.74543	1.458000	0.47871	0.609000	0.83330	AGG		0.358	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		5	64	1	0	0.014758	1	0.0153339	5	64				
ZFAND2A	90637	broad.mit.edu	37	7	1197388	1197388	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:1197388T>A	ENST00000316495.3	-	3	315		c.e3-2		AC091729.9_ENST00000423008.1_RNA|ZFAND2A_ENST00000401903.1_Splice_Site|ZFAND2A_ENST00000478137.1_5'Flank|AC091729.9_ENST00000422230.1_RNA|AC091729.9_ENST00000413706.1_RNA	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A						cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAAGAAAATCTAAAAAACAAA	0.343																																						ENST00000401903.1																			0				lung(2)|ovary(1)	3						c.e3-2		zinc finger, AN1-type domain 2A							101.0	109.0	106.0					7																	1197388		2203	4300	6503	SO:0001630	splice_region_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1197388T>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.56-2A>T	7.37:g.1197388T>A			Somatic				ZFAND2A_ENST00000316495.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	3	315	-		Ovarian(82;0.11)						A4D220	Splice_Site	SNP	ENST00000316495.3	37		CCDS5323.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582845	0.28268	.	.	ENSG00000178381	ENST00000401903;ENST00000397083;ENST00000316495	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1582	0.59531	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFAND2A	1163914	1.000000	0.71417	0.971000	0.41717	0.302000	0.27658	6.792000	0.75125	2.007000	0.58848	0.533000	0.62120	.		0.343	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491	Intron	5	192	0	0	0	1	0	5	192				
TMIGD2	126259	broad.mit.edu	37	19	4298004	4298004	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:4298004T>C	ENST00000301272.2	-	2	430	c.385A>G	c.(385-387)Aca>Gca	p.T129A	TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T129A|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	129	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGCCTTGTTATGTTGCCC	0.587																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(385-387)Aca>Gca		transmembrane and immunoglobulin domain containing 2							103.0	118.0	113.0					19																	4298004		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4298004T>C	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.385A>G	19.37:g.4298004T>C	ENSP00000301272:p.Thr129Ala		Somatic				TMIGD2_ENST00000595645.1_Missense_Mutation_p.T129A|TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Intron	p.T129A	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	WXS	Illumina GAIIx	Phase_I	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	2	430	-			129			Ig-like.		Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.385A>G	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325069	0.41197	.	.	ENSG00000167664	ENST00000301272	T	0.37235	1.21	4.09	0.627	0.17675	Immunoglobulin subtype (1);Immunoglobulin-like (1);	.	.	.	.	T	0.19208	0.0461	L	0.29908	0.895	0.09310	N	1	P;P	0.38551	0.582;0.636	B;B	0.32724	0.093;0.151	T	0.18178	-1.0345	9	0.62326	D	0.03	.	1.0833	0.01647	0.1874:0.1084:0.1942:0.51	.	129;129	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	A	129	ENSP00000301272:T129A	ENSP00000301272:T129A	T	-	1	0	TMIGD2	4249004	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	0.936000	0.28938	-0.137000	0.11455	0.397000	0.26171	ACA		0.587	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		19	78	0	0	0	1	0	19	78				
SPAG5	10615	broad.mit.edu	37	17	26906772	26906772	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:26906772C>T	ENST00000321765.5	-	17	3213	c.2881G>A	c.(2881-2883)Gca>Aca	p.A961T	ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	961					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCCTAACCTGCGGGCTGAAGG	0.478																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2881-2883)Gca>Aca		sperm associated antigen 5							132.0	137.0	136.0					17																	26906772		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26906772C>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2881G>A	17.37:g.26906772C>T	ENSP00000323300:p.Ala961Thr		Somatic					p.A961T	NM_006461.3	NP_006452.3	WXS	Illumina GAIIx	Phase_I	Q96R06	SPAG5_HUMAN			17	3213	-	Lung NSC(42;0.00431)		961					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2881G>A	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	4.362	0.066639	0.08388	.	.	ENSG00000076382	ENST00000321765	T	0.28454	1.61	5.4	-1.22	0.09494	.	0.581698	0.16609	N	0.206994	T	0.07999	0.0200	N	0.02247	-0.625	0.23376	N	0.99781	B	0.13145	0.007	B	0.08055	0.003	T	0.33954	-0.9848	10	0.06891	T	0.86	.	4.4537	0.11633	0.0:0.2992:0.3347:0.3662	.	961	Q96R06	SPAG5_HUMAN	T	961	ENSP00000323300:A961T	ENSP00000323300:A961T	A	-	1	0	SPAG5	23930899	0.997000	0.39634	0.997000	0.53966	0.983000	0.72400	0.010000	0.13242	-0.123000	0.11745	-0.320000	0.08662	GCA		0.478	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		5	532	0	0	0	1	0	5	532				
NFKB2	4791	broad.mit.edu	37	10	104160223	104160223	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:104160223G>T	ENST00000369966.3	+	16	2023	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	NFKB2_ENST00000428099.1_Missense_Mutation_p.Q591H|NFKB2_ENST00000189444.6_Missense_Mutation_p.Q591H	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	591					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q591H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CTGTGCCCCAGCTGTTGCATA	0.632			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		1	Substitution - Missense(1)	p.Q591H(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(1771-1773)caG>caT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							23.0	24.0	24.0					10																	104160223		2107	4231	6338	SO:0001583	missense	4791				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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104160223G>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1773G>T	10.37:g.104160223G>T	ENSP00000358983:p.Gln591His		Somatic				NFKB2_ENST00000189444.6_Missense_Mutation_p.Q591H|NFKB2_ENST00000428099.1_Missense_Mutation_p.Q591H	p.Q591H	NM_001077494.2	NP_001070962.1	WXS	Illumina GAIIx	Phase_I	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	16	2023	+		Colorectal(252;0.00957)	591					A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.1773G>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766790	0.31320	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.35421	1.31;1.31;1.31	4.51	-3.27	0.05048	Ankyrin repeat-containing domain (3);	0.182470	0.47093	D	0.000255	T	0.17577	0.0422	L	0.33485	1.01	0.20307	N	0.999914	B;B	0.21381	0.026;0.055	B;B	0.19148	0.006;0.024	T	0.22556	-1.0213	10	0.14656	T	0.56	.	4.6114	0.12404	0.6265:0.1017:0.1692:0.1026	.	591;591	Q00653;A8K9D9	NFKB2_HUMAN;.	H	591	ENSP00000410256:Q591H;ENSP00000358983:Q591H;ENSP00000189444:Q591H	ENSP00000189444:Q591H	Q	+	3	2	NFKB2	104150213	0.000000	0.05858	0.149000	0.22428	0.323000	0.28346	-1.671000	0.01954	-0.773000	0.04596	0.561000	0.74099	CAG		0.632	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			8	55	1	0	0.000157383	1	0.000165136	8	55				
CADPS	8618	broad.mit.edu	37	3	62451127	62451127	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:62451127T>A	ENST00000383710.4	-	26	3902		c.e26-2		CADPS_ENST00000462768.1_Splice_Site|CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000357948.3_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTAACGAACTAGAAAAACAG	0.368																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.e26-2		Ca++-dependent secretion activator							89.0	96.0	94.0					3																	62451127		2203	4300	6503	SO:0001630	splice_region_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62451127T>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3553-2A>T	3.37:g.62451127T>A			Somatic				CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000462768.1_Splice_Site|CADPS_ENST00000357948.3_Splice_Site		NM_003716.3	NP_003707.2	WXS	Illumina GAIIx	Phase_I	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	26	3902	-		Lung SC(41;0.0452)						A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP	ENST00000383710.4	37		CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180240	0.57800	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000473635;ENST00000357948;ENST00000283269;ENST00000466621	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62426167	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.698000	0.84413	2.288000	0.76882	0.482000	0.46254	.		0.368	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	Intron	5	130	0	0	0	1	0	5	130				
ATRNL1	26033	broad.mit.edu	37	10	116925320	116925320	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:116925320A>T	ENST00000355044.3	+	7	1133	c.1007A>T	c.(1006-1008)tAc>tTc	p.Y336F	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	336					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTTTTAGTTACAATTTAGAA	0.338																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1006-1008)tAc>tTc		attractin-like 1							72.0	72.0	72.0					10																	116925320		2203	4298	6501	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116925320A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1007A>T	10.37:g.116925320A>T	ENSP00000347152:p.Tyr336Phe		Somatic				ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	p.Y336F	NM_207303.2	NP_997186.1	WXS	Illumina GAIIx	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1133	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	336					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1007A>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850923	0.71719	.	.	ENSG00000107518	ENST00000355044	T	0.73363	-0.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.97;0.994	T	0.82321	-0.0515	10	0.46703	T	0.11	-14.1365	15.8897	0.79286	1.0:0.0:0.0:0.0	.	336;336	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	F	336	ENSP00000347152:Y336F	ENSP00000347152:Y336F	Y	+	2	0	ATRNL1	116915310	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.784000	0.91818	2.150000	0.67090	0.528000	0.53228	TAC		0.338	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		4	106	0	0	0	1	0	4	106				
ZNF462	58499	broad.mit.edu	37	9	109746495	109746495	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:109746495C>T	ENST00000277225.5	+	10	7150	c.6861C>T	c.(6859-6861)tgC>tgT	p.C2287C	ZNF462_ENST00000542028.1_Silent_p.C244C|ZNF462_ENST00000441147.2_Silent_p.C1193C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.C2347C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2287					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C2287C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTGAAGTTTGCCGGTCCAAAC	0.423																																						ENST00000277225.5																			1	Substitution - coding silent(1)	p.C2287C(1)	kidney(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6859-6861)tgC>tgT		zinc finger protein 462							101.0	97.0	98.0					9																	109746495		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109746495C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6861C>T	9.37:g.109746495C>T			Somatic				ZNF462_ENST00000441147.2_Silent_p.C1193C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.C2347C|ZNF462_ENST00000542028.1_Silent_p.C244C	p.C2287C			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			10	7150	+			2287					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6861C>T	CCDS35096.1																																																																																				0.423	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	294	0	0	0	1	0	4	294				
WDR5	11091	broad.mit.edu	37	9	137007540	137007540	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:137007540G>A	ENST00000358625.3	+	6	611	c.440G>A	c.(439-441)gGa>gAa	p.G147E	WDR5_ENST00000425041.1_Missense_Mutation_p.G147E	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	147					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATTGTCTCAGGATCCGTAAGT	0.502																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(439-441)gGa>gAa		WD repeat domain 5							105.0	103.0	104.0					9																	137007540		2203	4300	6503	SO:0001583	missense	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137007540G>A	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.440G>A	9.37:g.137007540G>A	ENSP00000351446:p.Gly147Glu		Somatic				WDR5_ENST00000425041.1_Missense_Mutation_p.G147E	p.G147E	NM_017588.2	NP_060058.1	WXS	Illumina GAIIx	Phase_I	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	6	611	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	147					Q91VA5|Q9NWX7|Q9UGP9	Missense_Mutation	SNP	ENST00000358625.3	37	c.440G>A	CCDS6981.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469194	0.63625	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	T;T	0.72051	-0.62;-0.62	3.99	3.99	0.46301	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92874	0.6317	10	0.87932	D	0	.	15.0467	0.71833	0.0:0.0:1.0:0.0	.	147	P61964	WDR5_HUMAN	E	147	ENSP00000351446:G147E;ENSP00000401889:G147E	ENSP00000351446:G147E	G	+	2	0	WDR5	135997361	1.000000	0.71417	0.989000	0.46669	0.336000	0.28762	8.804000	0.91921	1.948000	0.56530	0.455000	0.32223	GGA		0.502	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		7	27	0	0	0	1	0	7	27				
TMC6	11322	broad.mit.edu	37	17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T	rs199724291		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:76116777C>T	ENST00000590602.1	-	13	1831	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	558					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16250	0.0		0.001	False		,,,				2504	0.0					ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1672-1674)Gtc>Atc		transmembrane channel-like 6		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167.0	159.0	162.0		1672,1672	-9.1	0.0	17		162	0,8600		0,0,4300	yes	missense,missense	TMC6	NM_007267.6,NM_001127198.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	558/806,558/806	76116777	1,13005	2203	4300	6503	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76116777C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1672G>A	17.37:g.76116777C>T	ENSP00000465261:p.Val558Ile		Somatic				TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Intron	p.V558I			WXS	Illumina GAIIx	Phase_I	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		13	1831	-			558					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1672G>A	CCDS32748.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.008	-1.888457	0.00527	2.27E-4	0.0	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000392466	T;T	0.62639	0.01;0.01	4.55	-9.11	0.00711	.	0.503810	0.20929	N	0.083140	T	0.18425	0.0442	N	0.02391	-0.57	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.60954	-0.7160	10	0.02654	T	1	-8.9684	1.8191	0.03106	0.169:0.1482:0.3384:0.3443	.	558;558	B3KTU5;Q7Z403	.;TMC6_HUMAN	I	558;558;20	ENSP00000313408:V558I;ENSP00000376260:V558I	ENSP00000313408:V558I	V	-	1	0	TMC6	73628372	0.011000	0.17503	0.002000	0.10522	0.004000	0.04260	-1.158000	0.03153	-4.063000	0.00077	-1.474000	0.01003	GTC		0.637	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			17	62	0	0	0	1	0	17	62				
GPR35	2859	broad.mit.edu	37	2	241570154	241570154	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:241570154G>A	ENST00000319838.5	+	6	1727	c.785G>A	c.(784-786)aGc>aAc	p.S262N	GPR35_ENST00000403859.1_Missense_Mutation_p.S262N|GPR35_ENST00000407714.1_Missense_Mutation_p.S262N|GPR35_ENST00000430267.1_Missense_Mutation_p.S262N|GPR35_ENST00000438013.2_Missense_Mutation_p.S293N	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	262					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TACATAACCAGCAAGCTCTCA	0.632																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(784-786)aGc>aAc		G protein-coupled receptor 35							164.0	142.0	150.0					2																	241570154		2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241570154G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.785G>A	2.37:g.241570154G>A	ENSP00000322731:p.Ser262Asn		Somatic				GPR35_ENST00000430267.1_Missense_Mutation_p.S262N|GPR35_ENST00000403859.1_Missense_Mutation_p.S262N|GPR35_ENST00000438013.2_Missense_Mutation_p.S293N|GPR35_ENST00000407714.1_Missense_Mutation_p.S262N	p.S262N	NM_001195381.1	NP_001182310.1	WXS	Illumina GAIIx	Phase_I	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1727	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	262					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.785G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724583	0.48833	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	3.34	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.542791	0.19125	N	0.122065	T	0.44829	0.1312	L	0.61218	1.895	0.09310	N	1	D;D;P	0.62365	0.984;0.991;0.947	P;P;P	0.60236	0.871;0.868;0.789	T	0.25257	-1.0137	10	0.27785	T	0.31	-7.03	6.4029	0.21648	0.1216:0.5259:0.3524:0.0	.	347;293;262	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	N	262;262;293;262;262	ENSP00000322731:S262N;ENSP00000385140:S262N;ENSP00000415890:S293N;ENSP00000384263:S262N;ENSP00000411788:S262N	ENSP00000322731:S262N	S	+	2	0	GPR35	241218827	0.000000	0.05858	0.001000	0.08648	0.275000	0.26752	-0.430000	0.06973	0.225000	0.20959	0.305000	0.20034	AGC		0.632	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		4	115	0	0	0	1	0	4	115				
ZHX1	11244	broad.mit.edu	37	8	124267218	124267218	+	Nonsense_Mutation	SNP	A	A	T	rs184862716		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr8:124267218A>T	ENST00000522655.1	-	3	1509	c.969T>A	c.(967-969)taT>taA	p.Y323*	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Nonsense_Mutation_p.Y323*|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.Y323*|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	323	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTCCTCTGTATATTTTGCTT	0.398																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(967-969)taT>taA		zinc fingers and homeoboxes 1							204.0	204.0	204.0					8																	124267218		2203	4300	6503	SO:0001587	stop_gained	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267218A>T	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.969T>A	8.37:g.124267218A>T	ENSP00000428821:p.Tyr323*		Somatic				ZHX1_ENST00000297857.2_Nonsense_Mutation_p.Y323*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Nonsense_Mutation_p.Y323*	p.Y323*	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	WXS	Illumina GAIIx	Phase_I	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1586	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		323			Required for dimerization.|Required for interaction with NFYA.		Q8IWD8	Nonsense_Mutation	SNP	ENST00000522655.1	37	c.969T>A	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	41|41	8.859792|8.859792	0.98980|0.98980	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000520474|ENST00000297857;ENST00000395571;ENST00000522655	.|.	.|.	.|.	5.8|5.8	-3.73|-3.73	0.04398|0.04398	.|.	.|0.063695	.|0.64402	.|D	.|0.000005	T|.	0.31949|.	0.0813|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41395|.	-0.9511|.	3|.	.|0.02654	.|T	.|1	-12.0607|-12.0607	16.7768|16.7768	0.85552|0.85552	0.3135:0.0:0.6865:0.0|0.3135:0.0:0.6865:0.0	.|.	.|.	.|.	.|.	K|X	8|323	.|.	.|ENSP00000297857:Y323X	I|Y	-|-	2|3	0|2	ZHX1|ZHX1	124336399|124336399	0.347000|0.347000	0.24853|0.24853	0.972000|0.972000	0.41901|0.41901	0.992000|0.992000	0.81027|0.81027	-0.287000|-0.287000	0.08388|0.08388	-0.679000|-0.679000	0.05217|0.05217	-0.388000|-0.388000	0.06559|0.06559	ATA|TAT		0.398	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			6	430	0	0	0	1	0	6	430				
RNASEH2A	10535	broad.mit.edu	37	19	12921170	12921170	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:12921170G>C	ENST00000221486.4	+	6	683	c.589G>C	c.(589-591)Gag>Cag	p.E197Q		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	197					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCAGTTCGTGGAGAAACTGCA	0.567																																						ENST00000221486.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						c.(589-591)Gag>Cag		ribonuclease H2, subunit A							111.0	101.0	104.0					19																	12921170		2203	4300	6503	SO:0001583	missense	10535				DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12921170G>C	Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.589G>C	19.37:g.12921170G>C	ENSP00000221486:p.Glu197Gln		Somatic					p.E197Q	NM_006397.2	NP_006388.2	WXS	Illumina GAIIx	Phase_I	O75792	RNH2A_HUMAN			6	683	+			197					B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	c.589G>C	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594412	0.66219	.	.	ENSG00000104889	ENST00000221486	D	0.85861	-2.04	5.57	5.57	0.84162	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91725	0.5392	10	0.66056	D	0.02	-15.0013	18.3103	0.90197	0.0:0.0:1.0:0.0	.	197	O75792	RNH2A_HUMAN	Q	197	ENSP00000221486:E197Q	ENSP00000221486:E197Q	E	+	1	0	RNASEH2A	12782170	1.000000	0.71417	0.534000	0.28014	0.019000	0.09904	8.686000	0.91250	2.623000	0.88846	0.561000	0.74099	GAG		0.567	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		75	153	0	0	0	1	0	75	153				
TCEA2	6919	broad.mit.edu	37	20	62701613	62701613	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr20:62701613G>A	ENST00000343484.5	+	7	687	c.518G>A	c.(517-519)tGc>tAc	p.C173Y	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Splice_Site_p.C146Y	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	173	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACTTGCACGCATCTTCCGG	0.582											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361317.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12						c.e8-1		transcription elongation factor A (SII), 2							138.0	122.0	128.0					20																	62701613		2203	4300	6503	SO:0001630	splice_region_variant	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701613G>A	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.518-1G>A	20.37:g.62701613G>A			Somatic	OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1063	TCEA2_ENST00000343484.5_Splice_Site_p.C173_splice|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR	p.C146_splice	NM_198723.1	NP_942016.1	WXS	Illumina GAIIx	Phase_I	Q15560	TCEA2_HUMAN			8	879	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		173			TFIIS central.		B3KNM1|Q8TD37|Q8TD38	Splice_Site	SNP	ENST00000343484.5	37	c.436_splice	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.234795	0.01505	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.05	0.239	0.15484	.	1.312980	0.04713	N	0.417872	T	0.18882	0.0453	N	0.05050	-0.12	0.80722	D	1	.	.	.	.	.	.	T	0.39981	-0.9587	8	0.18710	T	0.47	.	0.9532	0.01380	0.2188:0.1372:0.3652:0.2788	.	.	.	.	Y	146;173;146;146;146	ENSP00000354552:C146Y;ENSP00000343515:C173Y;ENSP00000339432:C146Y;ENSP00000407085:C146Y;ENSP00000416026:C146Y	ENSP00000339432:C146Y	C	+	2	0	TCEA2	62172057	0.213000	0.23551	0.997000	0.53966	0.935000	0.57460	0.101000	0.15251	0.275000	0.22094	0.561000	0.74099	TGC		0.582	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723	Missense_Mutation	4	119	0	0	0	1	0	4	119				
C11orf49	79096	broad.mit.edu	37	11	47008758	47008758	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:47008758G>A	ENST00000278460.7	+	2	105		c.e2-1		C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000395460.2_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49							nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TTTGATTGCAGCTCAGCGACA	0.428																																						ENST00000395460.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.e2-1		chromosome 11 open reading frame 49							114.0	115.0	114.0					11																	47008758		2201	4299	6500	SO:0001630	splice_region_variant	79096							g.chr11:47008758G>A	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.47-1G>A	11.37:g.47008758G>A			Somatic				C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000278460.7_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site		NM_001003676.1	NP_001003676.1	WXS	Illumina GAIIx	Phase_I	Q9H6J7	CK049_HUMAN			2	84	+								D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Splice_Site	SNP	ENST00000278460.7	37		CCDS7925.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488303	0.64074	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1112	0.89537	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf49	46965334	1.000000	0.71417	0.998000	0.56505	0.617000	0.37484	6.747000	0.74872	2.732000	0.93576	0.591000	0.81541	.		0.428	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113	Intron	5	298	0	0	0	1	0	5	298				
FGFR4	2264	broad.mit.edu	37	5	176520544	176520544	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:176520544C>G	ENST00000292408.4	+	10	1634	c.1389C>G	c.(1387-1389)ccC>ccG	p.P463P	FGFR4_ENST00000393637.1_Silent_p.P423P|FGFR4_ENST00000292410.3_Silent_p.P423P|FGFR4_ENST00000502906.1_Silent_p.P463P|FGFR4_ENST00000393648.2_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	463					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGGAGTTCCCCCGGGACAGGT	0.682										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1387-1389)ccC>ccG		fibroblast growth factor receptor 4	Palifermin(DB00039)						55.0	62.0	59.0					5																	176520544		2203	4300	6503	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520544C>G	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1389C>G	5.37:g.176520544C>G		TSP Lung(9;0.080)	Somatic				FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000502906.1_Silent_p.P463P|FGFR4_ENST00000393637.1_Silent_p.P423P|FGFR4_ENST00000292410.3_Silent_p.P423P	p.P463P	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	WXS	Illumina GAIIx	Phase_I	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1634	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	463					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.1389C>G	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	9.784	1.176197	0.21704	.	.	ENSG00000160867	ENST00000511076	D	0.90563	-2.69	4.6	3.74	0.42951	.	0.106799	0.64402	D	0.000003	D	0.91482	0.7311	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90560	0.4515	7	0.59425	D	0.04	.	8.2793	0.31892	0.1551:0.7615:0.0:0.0834	.	.	.	.	A	95	ENSP00000424670:P95A	ENSP00000424670:P95A	P	+	1	0	FGFR4	176453150	0.842000	0.29525	1.000000	0.80357	0.929000	0.56500	-0.077000	0.11394	1.166000	0.42689	0.555000	0.69702	CCG		0.682	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			8	534	0	0	0	1	0	8	534				
GIMAP8	155038	broad.mit.edu	37	7	150171609	150171609	+	Missense_Mutation	SNP	G	G	C	rs536291210	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:150171609G>C	ENST00000307271.3	+	4	1766	c.1192G>C	c.(1192-1194)Gcc>Ccc	p.A398P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	398	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGATATAGTGCCTTCAACTA	0.443																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1192-1194)Gcc>Ccc		GTPase, IMAP family member 8							126.0	134.0	132.0					7																	150171609		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171609G>C	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1192G>C	7.37:g.150171609G>C	ENSP00000305107:p.Ala398Pro		Somatic					p.A398P	NM_175571.2	NP_783161.1	WXS	Illumina GAIIx	Phase_I	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1766	+			398						Missense_Mutation	SNP	ENST00000307271.3	37	c.1192G>C	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402518	0.42613	.	.	ENSG00000171115	ENST00000307271	T	0.61742	0.08	4.47	-5.28	0.02755	AIG1 (1);	1.933280	0.02733	N	0.115303	T	0.61800	0.2376	M	0.88310	2.945	0.09310	N	1	P	0.35107	0.484	B	0.36244	0.22	T	0.58730	-0.7585	10	0.56958	D	0.05	.	6.8779	0.24156	0.5454:0.0:0.335:0.1196	.	398	Q8ND71	GIMA8_HUMAN	P	398	ENSP00000305107:A398P	ENSP00000305107:A398P	A	+	1	0	GIMAP8	149802542	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.535000	0.23114	-1.142000	0.02869	0.650000	0.86243	GCC		0.443	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		99	380	0	0	0	1	0	99	380				
SOS1	6654	broad.mit.edu	37	2	39281850	39281850	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:39281850T>G	ENST00000426016.1	-	6	711	c.625A>C	c.(625-627)Atg>Ctg	p.M209L	SOS1_ENST00000395038.2_Missense_Mutation_p.M209L|SOS1_ENST00000402219.2_Missense_Mutation_p.M209L|SOS1_ENST00000428721.2_Missense_Mutation_p.M152L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	209	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTCTGCCATAAATGCTTTT	0.308									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(625-627)Atg>Ctg		son of sevenless homolog 1 (Drosophila)							82.0	92.0	89.0					2																	39281850		2203	4293	6496	SO:0001583	missense	6654	Noonan 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	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39281850T>G	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.625A>C	2.37:g.39281850T>G	ENSP00000387784:p.Met209Leu		Somatic				SOS1_ENST00000395038.2_Missense_Mutation_p.M209L|SOS1_ENST00000402219.2_Missense_Mutation_p.M209L|SOS1_ENST00000428721.2_Missense_Mutation_p.M152L	p.M209L			WXS	Illumina GAIIx	Phase_I	Q07889	SOS1_HUMAN			6	711	-		all_hematologic(82;0.21)	209			DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.625A>C	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.364897	0.41902	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.88	5.88	0.94601	Dbl homology (DH) domain (4);	0.000000	0.85682	D	0.000000	T	0.81541	0.4844	N	0.08118	0	0.58432	D	0.999995	B	0.09022	0.002	B	0.14578	0.011	T	0.76299	-0.3010	10	0.22109	T	0.4	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	209	Q07889	SOS1_HUMAN	L	209;209;209;209;152	ENSP00000387784:M209L;ENSP00000384675:M209L;ENSP00000378479:M209L;ENSP00000399992:M152L	ENSP00000263879:M209L	M	-	1	0	SOS1	39135354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.431000	0.80335	2.243000	0.73865	0.533000	0.62120	ATG		0.308	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	27	0	0	0	1	0	4	27				
PRSS12	8492	broad.mit.edu	37	4	119203321	119203321	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:119203321C>T	ENST00000296498.3	-	13	2680	c.2398G>A	c.(2398-2400)Ggt>Agt	p.G800S	PRSS12_ENST00000510903.1_5'Flank|SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	800	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GTAAACCGACCCTTATAACGT	0.478																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(2398-2400)Ggt>Agt		protease, serine, 12 (neurotrypsin, motopsin)							129.0	122.0	124.0					4																	119203321		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119203321C>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.2398G>A	4.37:g.119203321C>T	ENSP00000296498:p.Gly800Ser		Somatic					p.G800S	NM_003619.3	NP_003610.2	WXS	Illumina GAIIx	Phase_I	P56730	NETR_HUMAN			13	2680	-			800			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.2398G>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	c	12.17	1.858299	0.32791	.	.	ENSG00000164099	ENST00000296498	D	0.89123	-2.47	6.08	3.1	0.35709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.481200	0.26594	N	0.023519	T	0.72692	0.3492	N	0.12611	0.24	0.26945	N	0.966164	B	0.13145	0.007	B	0.12837	0.008	T	0.56050	-0.8043	10	0.09590	T	0.72	.	4.8161	0.13367	0.0:0.5618:0.1854:0.2528	.	800	P56730	NETR_HUMAN	S	800	ENSP00000296498:G800S	ENSP00000296498:G800S	G	-	1	0	PRSS12	119422769	0.226000	0.23696	0.131000	0.22000	0.963000	0.63663	1.243000	0.32767	0.923000	0.37045	-0.187000	0.12897	GGT		0.478	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			4	487	0	0	0	1	0	4	487				
SSX3	10214	broad.mit.edu	37	X	48209468	48209468	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:48209468G>C	ENST00000298396.2	-	6	472	c.420C>G	c.(418-420)tgC>tgG	p.C140W	SSX3_ENST00000376895.1_Missense_Mutation_p.C52W|SSX3_ENST00000376893.3_Missense_Mutation_p.C140W	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						TTCCCGGGGGGCACAGCTGTT	0.488																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(418-420)tgC>tgG		synovial sarcoma, X breakpoint 3							242.0	221.0	228.0					X																	48209468		2203	4300	6503	SO:0001583	missense	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209468G>C	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.420C>G	X.37:g.48209468G>C	ENSP00000298396:p.Cys140Trp		Somatic				SSX3_ENST00000376895.1_Missense_Mutation_p.C52W|SSX3_ENST00000376893.3_Missense_Mutation_p.C140W	p.C140W	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			6	472	-			140					O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	c.420C>G	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	g	7.748	0.702643	0.15172	.	.	ENSG00000165584	ENST00000298396;ENST00000376895;ENST00000376893	T;T;T	0.33438	3.05;1.41;2.99	1.72	0.751	0.18392	.	1.623200	0.03986	N	0.294057	T	0.46927	0.1418	M	0.74258	2.255	0.09310	N	1	D;B	0.63046	0.992;0.384	P;B	0.56127	0.792;0.345	T	0.15809	-1.0424	10	0.49607	T	0.09	.	4.6818	0.12738	0.0:0.0:0.6301:0.3699	.	140;140	Q9BRW7;Q99909	.;SSX3_HUMAN	W	140;52;140	ENSP00000298396:C140W;ENSP00000366092:C52W;ENSP00000366090:C140W	ENSP00000298396:C140W	C	-	3	2	SSX3	48094412	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.112000	0.15479	0.170000	0.19704	0.171000	0.16805	TGC		0.488	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		6	473	0	0	0	1	0	6	473				
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(91-93)ttA>ttT		olfactory receptor, family 4, subfamily D, member 11							113.0	107.0	109.0					11																	59271141		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271141A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.93A>T	11.37:g.59271141A>T	ENSP00000320077:p.Leu31Phe		Somatic					p.L31F	NM_001004706.1	NP_001004706.1	WXS	Illumina GAIIx	Phase_I	Q8NGI4	OR4DB_HUMAN			1	93	+			31						Missense_Mutation	SNP	ENST00000313253.1	37	c.93A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.463158	0.00171	.	.	ENSG00000176200	ENST00000313253	T	0.00012	9.3	5.45	0.808	0.18719	.	0.176500	0.27147	N	0.020708	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	10	0.02654	T	1	-20.1355	9.01	0.36135	0.1516:0.0:0.6995:0.1488	.	31	Q8NGI4	OR4DB_HUMAN	F	31	ENSP00000320077:L31F	ENSP00000320077:L31F	L	+	3	2	OR4D11	59027717	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.634000	0.05477	0.138000	0.18790	-0.371000	0.07208	TTA		0.448	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		12	217	0	0	0	1	0	12	217				
EIF2S2	8894	broad.mit.edu	37	20	32686368	32686368	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr20:32686368A>T	ENST00000374980.2	-	4	590	c.369T>A	c.(367-369)aaT>aaA	p.N123K		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCTTCTTTTTATTGCCAAGCA	0.368																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(367-369)aaT>aaA		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							98.0	95.0	96.0					20																	32686368		2203	4298	6501	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32686368A>T	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.369T>A	20.37:g.32686368A>T	ENSP00000364119:p.Asn123Lys		Somatic					p.N123K	NM_003908.3	NP_003899.2	WXS	Illumina GAIIx	Phase_I	P20042	IF2B_HUMAN			4	590	-			123					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.369T>A	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	A	4.126	0.021634	0.08006	.	.	ENSG00000125977	ENST00000374980	T	0.38240	1.15	5.81	3.44	0.39384	.	0.314551	0.39407	N	0.001362	T	0.07007	0.0178	N	0.00368	-1.59	0.31290	N	0.689514	B;B;B	0.30482	0.0;0.281;0.281	B;B;B	0.19391	0.0;0.025;0.025	T	0.29181	-1.0020	10	0.05833	T	0.94	-23.5759	7.5922	0.28027	0.7828:0.0:0.2172:0.0	.	123;123;123	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	K	123	ENSP00000364119:N123K	ENSP00000364119:N123K	N	-	3	2	EIF2S2	32150029	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.554000	0.23407	0.971000	0.38288	0.528000	0.53228	AAT		0.368	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		7	183	0	0	0	1	0	7	183				
KRT39	390792	broad.mit.edu	37	17	39122859	39122859	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:39122859C>T	ENST00000355612.2	-	1	285	c.250G>A	c.(250-252)Gac>Aac	p.D84N	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	84	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGCTGCAGTCATCCAGAGAA	0.498																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(250-252)Gac>Aac		keratin 39							200.0	200.0	200.0					17																	39122859		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39122859C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.250G>A	17.37:g.39122859C>T	ENSP00000347823:p.Asp84Asn		Somatic				AC004231.2_ENST00000418393.1_RNA	p.D84N	NM_213656.3	NP_998821.3	WXS	Illumina GAIIx	Phase_I	Q6A163	K1C39_HUMAN			1	285	-		Breast(137;0.00043)|Ovarian(249;0.15)	84			Head.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.250G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500384	0.26861	.	.	ENSG00000196859	ENST00000355612	D	0.81739	-1.53	5.51	0.717	0.18196	.	0.000000	0.47093	D	0.000248	T	0.67627	0.2913	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44967	-0.9293	10	0.13853	T	0.58	.	4.1714	0.10331	0.271:0.4604:0.0:0.2686	.	84	Q6A163	K1C39_HUMAN	N	84	ENSP00000347823:D84N	ENSP00000347823:D84N	D	-	1	0	KRT39	36376385	0.023000	0.18921	0.412000	0.26496	0.043000	0.13939	0.966000	0.29331	0.384000	0.24942	-0.152000	0.13540	GAC		0.498	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		79	742	0	0	0	1	0	79	742				
GNB1	2782	broad.mit.edu	37	1	1721888	1721888	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:1721888T>G	ENST00000378609.4	-	9	976	c.645A>C	c.(643-645)gaA>gaC	p.E215D		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	215					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCACATGCCTTCTCGCACAT	0.567																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(643-645)gaA>gaC		guanine nucleotide binding protein (G protein), beta polypeptide 1							122.0	99.0	107.0					1																	1721888		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1721888T>G	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.645A>C	1.37:g.1721888T>G	ENSP00000367872:p.Glu215Asp		Somatic					p.E215D	NM_002074.3	NP_002065.1	WXS	Illumina GAIIx	Phase_I	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	976	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	215					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.645A>C	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.859|7.859	0.725653|0.725653	0.15439|0.15439	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.01265|.	5.08|.	5.43|5.43	4.3|4.3	0.51218|0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.094537|.	0.64402|.	D|.	0.000001|.	T|T	0.41627|0.41627	0.1167|0.1167	N|N	0.20304|0.20304	0.555|0.555	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.17258|0.17258	-1.0375|-1.0375	10|5	0.26408|.	T|.	0.33|.	-12.7705|-12.7705	10.4324|10.4324	0.44415|0.44415	0.0:0.0763:0.0:0.9237|0.0:0.0763:0.0:0.9237	.|.	215|.	P62873|.	GBB1_HUMAN|.	D|T	215;115;215|73	ENSP00000367872:E215D|.	ENSP00000367869:E215D|.	E|K	-|-	3|2	2|0	GNB1|GNB1	1711748|1711748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.687000|1.687000	0.37680|0.37680	0.902000|0.902000	0.36520|0.36520	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.567	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		57	119	0	0	0	1	0	57	119				
DGKI	9162	broad.mit.edu	37	7	137237186	137237186	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:137237186C>A	ENST00000288490.5	-	20	2076	c.2076G>T	c.(2074-2076)cgG>cgT	p.R692R	DGKI_ENST00000453654.2_Silent_p.R392R|DGKI_ENST00000446122.1_Silent_p.R692R|DGKI_ENST00000424189.2_Silent_p.R692R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	692					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCAGGGAGATCCGAATCATAG	0.502																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1174-1176)cgG>cgT		diacylglycerol kinase, iota							162.0	136.0	145.0					7																	137237186		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237186C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2076G>T	7.37:g.137237186C>A			Somatic				DGKI_ENST00000288490.5_Silent_p.R692R|DGKI_ENST00000446122.1_Silent_p.R692R|DGKI_ENST00000424189.2_Silent_p.R692R	p.R392R			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			20	1715	-			692			DAGKc.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.1176G>T	CCDS5845.1																																																																																				0.502	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		42	629	1	0	3.4345e-17	1	3.71344e-17	42	629				
CNTN1	1272	broad.mit.edu	37	12	41337895	41337895	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:41337895C>T	ENST00000551295.2	+	14	1723	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	CNTN1_ENST00000547702.1_Missense_Mutation_p.L536F|CNTN1_ENST00000360099.3_Missense_Mutation_p.L536F|CNTN1_ENST00000547849.1_Missense_Mutation_p.L536F|CNTN1_ENST00000348761.2_Missense_Mutation_p.L525F|CNTN1_ENST00000347616.1_Missense_Mutation_p.L536F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	536	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCCTTGGATCTCACATTTGT	0.403																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1606-1608)Ctc>Ttc		contactin 1							153.0	122.0	133.0					12																	41337895		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337895C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1606C>T	12.37:g.41337895C>T	ENSP00000447006:p.Leu536Phe		Somatic				CNTN1_ENST00000547849.1_Missense_Mutation_p.L536F|CNTN1_ENST00000348761.2_Missense_Mutation_p.L525F|CNTN1_ENST00000547702.1_Missense_Mutation_p.L536F|CNTN1_ENST00000347616.1_Missense_Mutation_p.L536F|CNTN1_ENST00000360099.3_Missense_Mutation_p.L536F	p.L536F	NM_001843.3	NP_001834.2	WXS	Illumina GAIIx	Phase_I	Q12860	CNTN1_HUMAN			14	1723	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	536			Ig-like C2-type 6.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1606C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658066	0.67586	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	5.0	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123891	0.56097	D	0.000034	T	0.44180	0.1281	M	0.84585	2.705	0.48830	D	0.99971	D;D;D	0.89917	0.992;0.999;1.0	P;D;D	0.79784	0.881;0.978;0.993	T	0.47674	-0.9099	10	0.72032	D	0.01	.	18.8715	0.92317	0.0:1.0:0.0:0.0	.	536;525;536	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	F	536;536;536;536;536;525	ENSP00000448004:L536F;ENSP00000447006:L536F;ENSP00000448653:L536F;ENSP00000325660:L536F;ENSP00000353213:L536F;ENSP00000261160:L525F	ENSP00000325660:L536F	L	+	1	0	CNTN1	39624162	1.000000	0.71417	0.982000	0.44146	0.744000	0.42396	5.500000	0.66943	2.774000	0.95407	0.609000	0.83330	CTC		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		17	141	0	0	0	1	0	17	141				
NAV3	89795	broad.mit.edu	37	12	78362323	78362323	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:78362323C>G	ENST00000397909.2	+	5	685	c.512C>G	c.(511-513)gCc>gGc	p.A171G	NAV3_ENST00000228327.6_Missense_Mutation_p.A171G|NAV3_ENST00000266692.7_Missense_Mutation_p.A171G|NAV3_ENST00000536525.2_Missense_Mutation_p.A171G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	171	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACTTAAAAGCCATTCTAGGG	0.333										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(511-513)gCc>gGc		neuron navigator 3							67.0	70.0	69.0					12																	78362323		1877	4099	5976	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362323C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.512C>G	12.37:g.78362323C>G	ENSP00000381007:p.Ala171Gly	HNSCC(70;0.22)	Somatic				NAV3_ENST00000266692.7_Missense_Mutation_p.A171G|NAV3_ENST00000536525.2_Missense_Mutation_p.A171G|NAV3_ENST00000228327.6_Missense_Mutation_p.A171G	p.A171G			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			5	685	+			171			CH.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.512C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.203831|3.203831	0.58234|0.58234	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	D;D;D;D;D|.	0.95035|.	-3.59;-3.59;-3.59;-3.59;-3.59|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Calponin homology domain (5);|.	0.000000|.	0.37906|.	U|.	0.001896|.	T|T	0.73289|0.73289	0.3568|0.3568	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;B|.	0.31174|.	0.004;0.311|.	B;B|.	0.40228|.	0.062;0.323|.	T|T	0.69091|0.69091	-0.5237|-0.5237	10|5	0.87932|.	D|.	0|.	-15.5348|-15.5348	19.9618|19.9618	0.97254|0.97254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	171;171|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	G|R	171|17	ENSP00000446628:A171G;ENSP00000446132:A171G;ENSP00000381007:A171G;ENSP00000228327:A171G;ENSP00000266692:A171G|.	ENSP00000228327:A171G|.	A|S	+|+	2|3	0|2	NAV3|NAV3	76886454|76886454	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.594000|3.594000	0.54008|0.54008	2.719000|2.719000	0.93026|0.93026	0.632000|0.632000	0.83419|0.83419	GCC|AGC		0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	17	0	0	0	1	0	11	17				
RXFP2	122042	broad.mit.edu	37	13	32365941	32365941	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr13:32365941A>T	ENST00000298386.2	+	15	1216		c.e15-1		RXFP2_ENST00000380314.1_Splice_Site	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTGACTTTAGTTATTTCAA	0.433																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.e15-1		relaxin/insulin-like family peptide receptor 2							124.0	113.0	117.0					13																	32365941		2203	4300	6503	SO:0001630	splice_region_variant	122042					integral to membrane|plasma membrane		g.chr13:32365941A>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1146-1A>T	13.37:g.32365941A>T			Somatic				RXFP2_ENST00000380314.1_Splice_Site		NM_130806.3	NP_570718.1	WXS	Illumina GAIIx	Phase_I	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	15	1216	+		Lung SC(185;0.0262)						B1ALE9|Q3KU23	Splice_Site	SNP	ENST00000298386.2	37		CCDS9342.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525117	0.85600	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.772	0.63032	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RXFP2	31263941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.101000	0.94219	2.150000	0.67090	0.533000	0.62120	.		0.433	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	Intron	4	102	0	0	0	1	0	4	102				
ASXL1	171023	broad.mit.edu	37	20	31019246	31019246	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr20:31019246C>G	ENST00000375687.4	+	9	1265	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	ASXL1_ENST00000306058.5_Missense_Mutation_p.Q276E	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	281	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATCACACTTCCAGCAGCAGCT	0.527			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(841-843)Cag>Gag		additional sex combs like 1 (Drosophila)							153.0	151.0	152.0					20																	31019246		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31019246C>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.841C>G	20.37:g.31019246C>G	ENSP00000364839:p.Gln281Glu		Somatic				ASXL1_ENST00000306058.5_Missense_Mutation_p.Q276E	p.Q281E	NM_015338.5	NP_056153.2	WXS	Illumina GAIIx	Phase_I	Q8IXJ9	ASXL1_HUMAN			9	1265	+			281					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.841C>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673287	0.88445	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	T;T	0.30182	1.56;1.54	5.27	5.27	0.74061	.	0.056794	0.64402	D	0.000001	T	0.59636	0.2208	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.83275	0.994;0.996	T	0.63056	-0.6722	10	0.87932	D	0	-11.3327	19.0985	0.93265	0.0:1.0:0.0:0.0	.	276;281	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	E	281;281;281;220;276;53	ENSP00000364839:Q281E;ENSP00000305119:Q276E	ENSP00000305119:Q276E	Q	+	1	0	ASXL1	30482907	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.289000	0.78701	2.751000	0.94390	0.650000	0.86243	CAG		0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		17	205	0	0	0	1	0	17	205				
COPG1	22820	broad.mit.edu	37	3	128976337	128976337	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:128976337C>G	ENST00000314797.6	+	9	708	c.604C>G	c.(604-606)Cat>Gat	p.H202D		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	202					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GCTCCTGTACCATGTGCGTAA	0.517																																						ENST00000314797.6																			0											c.(604-606)Cat>Gat		coatomer protein complex, subunit gamma 1							168.0	162.0	164.0					3																	128976337		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128976337C>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.604C>G	3.37:g.128976337C>G	ENSP00000325002:p.His202Asp		Somatic					p.H202D	NM_016128.3	NP_057212.1	WXS	Illumina GAIIx	Phase_I	Q9Y678	COPG_HUMAN			9	708	+			202					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.604C>G	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274044	0.59649	.	.	ENSG00000181789	ENST00000314797	T	0.25579	1.79	5.29	5.29	0.74685	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.145662	0.47093	D	0.000243	T	0.48909	0.1526	M	0.71206	2.165	0.53688	D	0.999973	D	0.54772	0.968	D	0.67900	0.954	T	0.33904	-0.9850	10	0.30854	T	0.27	-1.1238	16.519	0.84308	0.0:1.0:0.0:0.0	.	202	Q9Y678	COPG_HUMAN	D	202	ENSP00000325002:H202D	ENSP00000325002:H202D	H	+	1	0	COPG	130459027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.517000	0.81783	2.490000	0.84030	0.585000	0.79938	CAT		0.517	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		4	456	0	0	0	1	0	4	456				
TTN	7273	broad.mit.edu	37	2	179460510	179460510	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:179460510A>G	ENST00000591111.1	-	245	52872	c.52648T>C	c.(52648-52650)Ttc>Ctc	p.F17550L	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F10318L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F16623L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F10251L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F19191L|TTN_ENST00000460472.2_Missense_Mutation_p.F10126L|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17550	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGCTAGGAATGGTGTTCCA	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(57571-57573)Ttc>Ctc		titin							71.0	64.0	66.0					2																	179460510		1884	4122	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179460510A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52648T>C	2.37:g.179460510A>G	ENSP00000465570:p.Phe17550Leu		Somatic				TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F10126L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F16623L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F17550L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F10251L|TTN_ENST00000342175.6_Missense_Mutation_p.F10318L	p.F19191L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		295	57795	-			17550			Ig-like 108.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.57571T>C		.	.	.	.	.	.	.	.	.	.	A	17.38	3.375842	0.61735	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	6.05	6.05	0.98169	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29620	0.0739	N	0.04705	-0.18	0.58432	D	0.999993	B;B;B;B	0.20550	0.046;0.046;0.046;0.046	B;B;B;B	0.22601	0.04;0.04;0.04;0.04	T	0.15607	-1.0431	9	0.87932	D	0	.	12.362	0.55209	0.9331:0.0:0.0669:0.0	.	10126;10251;10318;17550	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16623;10126;10318;10251;10124	ENSP00000343764:F16623L;ENSP00000434586:F10126L;ENSP00000340554:F10318L;ENSP00000352154:F10251L	ENSP00000340554:F10318L	F	-	1	0	TTN	179168756	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.483000	0.81158	2.320000	0.78422	0.528000	0.53228	TTC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	31	0	0	0	1	0	4	31				
PXN	5829	broad.mit.edu	37	12	120659463	120659463	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:120659463T>A	ENST00000228307.7	-	6	935	c.794A>T	c.(793-795)gAg>gTg	p.E265V	PXN_ENST00000397506.3_5'Flank|PXN_ENST00000424649.2_Missense_Mutation_p.E265V|PXN_ENST00000536957.1_Missense_Mutation_p.E263V|PXN_ENST00000267257.7_Missense_Mutation_p.E265V|PXN_ENST00000458477.2_Missense_Mutation_p.E132V|PXN_ENST00000538144.1_5'UTR	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	265					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGTCCAGCTCCCTGGTGGC	0.632																																						ENST00000536957.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(787-789)gAg>gTg		paxillin							50.0	72.0	65.0					12																	120659463		2166	4265	6431	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120659463T>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.794A>T	12.37:g.120659463T>A	ENSP00000228307:p.Glu265Val		Somatic				PXN_ENST00000267257.7_Missense_Mutation_p.E265V|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Missense_Mutation_p.E265V|PXN_ENST00000458477.2_Missense_Mutation_p.E132V|PXN_ENST00000228307.7_Missense_Mutation_p.E265V	p.E263V			WXS	Illumina GAIIx	Phase_I	P49023	PAXI_HUMAN			6	1263	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		265					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.788A>T	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	T	34	5.323115	0.95708	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000541856	T;T;T;T;T	0.64260	0.33;-0.04;0.43;-0.09;0.28	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75889	0.3911	L	0.59436	1.845	0.80722	D	1	D;D;D	0.65815	0.982;0.995;0.983	D;D;D	0.70716	0.936;0.97;0.912	T	0.78468	-0.2192	10	0.87932	D	0	-12.2165	15.771	0.78167	0.0:0.0:0.0:1.0	.	265;265;265	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	V	132;265;265;263;265;24	ENSP00000395536:E132V;ENSP00000228307:E265V;ENSP00000391283:E265V;ENSP00000443887:E263V;ENSP00000267257:E265V	ENSP00000228307:E265V	E	-	2	0	PXN	119143846	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.427000	0.80284	2.124000	0.65301	0.482000	0.46254	GAG		0.632	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		4	9	0	0	0	1	0	4	9				
ITLN1	55600	broad.mit.edu	37	1	160854675	160854675	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:160854675T>A	ENST00000326245.3	-	2	110		c.e2-2			NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)						positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTGTAATCTAAAGAAAGCA	0.493																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.e2-2		intelectin 1 (galactofuranose binding)							148.0	141.0	143.0					1																	160854675		2203	4300	6503	SO:0001630	splice_region_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160854675T>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.6-2A>T	1.37:g.160854675T>A			Somatic						NM_017625.2	NP_060095.2	WXS	Illumina GAIIx	Phase_I	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	110	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)							Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Splice_Site	SNP	ENST00000326245.3	37		CCDS1211.1																																																																																				0.493	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625	Intron	7	531	0	0	0	1	0	7	531				
ENPP4	22875	broad.mit.edu	37	6	46111011	46111011	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:46111011A>T	ENST00000321037.4	+	4	1227		c.e4-1			NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)						blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTTCTTTTTCAGTAGGTGACC	0.358																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.e4-1		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							125.0	126.0	126.0					6																	46111011		2203	4299	6502	SO:0001630	splice_region_variant	22875					integral to membrane	hydrolase activity	g.chr6:46111011A>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.998-1A>T	6.37:g.46111011A>T			Somatic						NM_014936.4	NP_055751.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X5	ENPP4_HUMAN			4	1227	+								A8K5G1|Q7L2N1	Splice_Site	SNP	ENST00000321037.4	37		CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416728	0.83449	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP4	46218970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.160000	0.67779	0.528000	0.53228	.		0.358	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2		Intron	5	317	0	0	0	1	0	5	317				
KIAA1324	57535	broad.mit.edu	37	1	109740155	109740155	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:109740155G>A	ENST00000369939.3	+	16	2364	c.2181G>A	c.(2179-2181)gaG>gaA	p.E727E	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.E640E	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	727					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGAGGGTGAGTCAGGGTTCT	0.552																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2179-2181)gaG>gaA		KIAA1324							86.0	84.0	85.0					1																	109740155		2203	4300	6503	SO:0001819	synonymous_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109740155G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2181G>A	1.37:g.109740155G>A			Somatic				KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.E640E	p.E727E	NM_020775.4	NP_065826.2	WXS	Illumina GAIIx	Phase_I	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	16	2364	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	727					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	c.2181G>A	CCDS794.1																																																																																				0.552	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		5	174	0	0	0	1	0	5	174				
MEGF10	84466	broad.mit.edu	37	5	126666981	126666981	+	Splice_Site	SNP	A	A	T	rs367819491		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:126666981A>T	ENST00000274473.6	+	3	249		c.e3-1		MEGF10_ENST00000508365.1_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCTTTCTTGTAGGTTGTTCTT	0.383																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.e3-1		multiple EGF-like-domains 10							75.0	74.0	74.0					5																	126666981		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126666981A>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.-18-1A>T	5.37:g.126666981A>T			Somatic				MEGF10_ENST00000508365.1_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site		NM_032446.2	NP_115822.1	WXS	Illumina GAIIx	Phase_I	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	3	249	+		Prostate(80;0.165)						Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	37		CCDS4142.1																																																																																				0.383	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Intron	4	54	0	0	0	1	0	4	54				
GCA	25801	broad.mit.edu	37	2	163215557	163215557	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:163215557A>T	ENST00000437150.2	+	6	619	c.458A>T	c.(457-459)tAt>tTt	p.Y153F	GCA_ENST00000233612.4_Missense_Mutation_p.Y134F|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	153	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TTTTTAGGTTATAGGTTGAGT	0.289																																						ENST00000437150.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						c.(457-459)tAt>tTt		grancalcin, EF-hand calcium binding protein							90.0	93.0	92.0					2																	163215557		2203	4300	6503	SO:0001583	missense	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163215557A>T	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.458A>T	2.37:g.163215557A>T	ENSP00000394842:p.Tyr153Phe		Somatic				GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Missense_Mutation_p.Y134F	p.Y153F	NM_012198.3	NP_036330.1	WXS	Illumina GAIIx	Phase_I	P28676	GRAN_HUMAN			6	619	+			153			EF-hand 3.		B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	c.458A>T	CCDS2218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.27|19.27	3.794841|3.794841	0.70452|0.70452	.|.	.|.	ENSG00000115271|ENSG00000115271	ENST00000414723|ENST00000437150;ENST00000233612	.|T;T	.|0.39787	.|1.06;1.06	5.41|5.41	4.24|4.24	0.50183|0.50183	.|EF-hand-like domain (1);	.|0.056931	.|0.64402	.|D	.|0.000001	T|T	0.44603|0.44603	0.1301|0.1301	L|L	0.31664|0.31664	0.95|0.95	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	T|T	0.41484|0.41484	-0.9506|-0.9506	5|10	.|0.02654	.|T	.|1	.|.	11.1238|11.1238	0.48306|0.48306	0.8614:0.0:0.0:0.1386|0.8614:0.0:0.0:0.1386	.|.	.|153	.|P28676	.|GRAN_HUMAN	L|F	66|153;134	.|ENSP00000394842:Y153F;ENSP00000233612:Y134F	.|ENSP00000233612:Y134F	I|Y	+|+	1|2	0|0	GCA|GCA	162923803|162923803	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.964000|0.964000	0.63967|0.63967	5.618000|5.618000	0.67722|0.67722	0.960000|0.960000	0.38005|0.38005	0.528000|0.528000	0.53228|0.53228	ATA|TAT		0.289	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		8	107	0	0	0	1	0	8	107				
PKP2	5318	broad.mit.edu	37	12	32996166	32996166	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:32996166T>C	ENST00000070846.6	-	6	1484	c.1460A>G	c.(1459-1461)cAa>cGa	p.Q487R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	487					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ccgcccgccttggcctcccaa	0.532																																						ENST00000070846.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1459-1461)cAa>cGa		plakophilin 2							32.0	32.0	32.0					12																	32996166		2203	4296	6499	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996166T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1460A>G	12.37:g.32996166T>C	ENSP00000070846:p.Gln487Arg		Somatic				PKP2_ENST00000340811.4_Intron	p.Q487R	NM_004572.3	NP_004563.2	WXS	Illumina GAIIx	Phase_I	Q99959	PKP2_HUMAN			6	1484	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		487					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1460A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.786271	0.00628	.	.	ENSG00000057294	ENST00000070846;ENST00000537278	T	0.52057	0.68	0.51	-1.02	0.10135	Armadillo-type fold (1);	.	.	.	.	T	0.19127	0.0459	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	8	0.11182	T	0.66	.	.	.	.	.	487	Q99959	PKP2_HUMAN	R	487	ENSP00000070846:Q487R	ENSP00000070846:Q487R	Q	-	2	0	PKP2	32887433	0.006000	0.16342	0.003000	0.11579	0.004000	0.04260	-1.390000	0.02528	-1.723000	0.01375	-1.843000	0.00578	CAA		0.532	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		2	25	0	0	0	1	0	2	25				
SAP130	79595	broad.mit.edu	37	2	128757929	128757929	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:128757929A>G	ENST00000259235.3	-	8	1176	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	SAP130_ENST00000259234.6_Silent_p.S323S|SAP130_ENST00000357702.5_Silent_p.S349S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	349					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATGCAGGGTGAGATGGTAGTG	0.473																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1045-1047)tcT>tcC		Sin3A-associated protein, 130kDa							330.0	290.0	303.0					2																	128757929		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128757929A>G	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1047T>C	2.37:g.128757929A>G			Somatic				SAP130_ENST00000259234.6_Silent_p.S323S|SAP130_ENST00000259235.3_Silent_p.S349S	p.S349S	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	8	1178	-	Colorectal(110;0.1)		349					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.1047T>C	CCDS2153.1																																																																																				0.473	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		180	635	0	0	0	1	0	180	635				
SYCP2L	221711	broad.mit.edu	37	6	10955427	10955427	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:10955427T>A	ENST00000283141.6	+	24	2329	c.2033T>A	c.(2032-2034)aTa>aAa	p.I678K		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	678						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCTTTCTCAATAACAGAAGAA	0.443											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2032-2034)aTa>aAa		synaptonemal complex protein 2-like							133.0	132.0	132.0					6																	10955427		1916	4131	6047	SO:0001583	missense	221711					nucleus		g.chr6:10955427T>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2033T>A	6.37:g.10955427T>A	ENSP00000283141:p.Ile678Lys		Somatic	OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	668		p.I678K	NM_001040274.2	NP_001035364.2	WXS	Illumina GAIIx	Phase_I	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		24	2329	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	678					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.2033T>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389254	0.25118	.	.	ENSG00000153157	ENST00000283141	T	0.18338	2.22	3.79	-0.112	0.13572	.	1.262150	0.05358	N	0.533089	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.17098	0.017	T	0.37820	-0.9689	10	0.07644	T	0.81	-0.4258	2.5491	0.04744	0.1999:0.2298:0.0:0.5703	.	678	Q5T4T6	SYC2L_HUMAN	K	678	ENSP00000283141:I678K	ENSP00000283141:I678K	I	+	2	0	SYCP2L	11063413	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.582000	0.23834	-0.171000	0.10797	0.529000	0.55759	ATA		0.443	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		4	238	0	0	0	1	0	4	238				
SYNJ2	8871	broad.mit.edu	37	6	158464376	158464376	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:158464376C>A	ENST00000355585.4	+	5	815	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S247Y|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S247Y|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S196Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	247	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGTGTCATCTTTTGTCCAG	0.493																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(739-741)tCt>tAt		synaptojanin 2							147.0	125.0	132.0					6																	158464376		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158464376C>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.740C>A	6.37:g.158464376C>A	ENSP00000347792:p.Ser247Tyr		Somatic				SYNJ2_ENST00000449859.2_Missense_Mutation_p.S196Y|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S247Y|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S247Y	p.S247Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	WXS	Illumina GAIIx	Phase_I	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	5	815	+			247			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.740C>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829122	0.90955	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.47	5.47	0.80525	Synaptojanin, N-terminal (2);	0.000000	0.53938	D	0.000051	D	0.91054	0.7185	H	0.99336	4.52	0.51767	D	0.999935	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.91939	0.5561	10	0.87932	D	0	.	18.2975	0.90151	0.0:1.0:0.0:0.0	.	196;247;247;247	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	Y	247;247;247;196	ENSP00000356089:S247Y;ENSP00000356088:S247Y;ENSP00000347792:S247Y;ENSP00000388371:S196Y	ENSP00000347792:S247Y	S	+	2	0	SYNJ2	158384364	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.458000	0.80787	-0.442000	0.07190	0.533000	0.62120	TCT		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			68	106	1	0	8.78091e-33	1	9.69085e-33	68	106				
RAD18	56852	broad.mit.edu	37	3	8944117	8944117	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:8944117A>T	ENST00000264926.2	-	10	1231	c.1115T>A	c.(1114-1116)gTa>gAa	p.V372E		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	372					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTATTGTTACTGTTTTTTG	0.308								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(1114-1116)gTa>gAa	Rad6 pathway	RAD18 homolog (S. cerevisiae)							169.0	157.0	161.0					3																	8944117		2202	4300	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8944117A>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1115T>A	3.37:g.8944117A>T	ENSP00000264926:p.Val372Glu		Somatic					p.V372E	NM_020165.3	NP_064550.3	WXS	Illumina GAIIx	Phase_I	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	10	1231	-			372					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.1115T>A	CCDS2571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.878097|3.878097	0.72294|0.72294	.|.	.|.	ENSG00000070950|ENSG00000070950	ENST00000427329|ENST00000264926	.|T	.|0.21543	.|2.0	4.63|4.63	-0.884|-0.884	0.10597|0.10597	.|.	.|0.879574	.|0.09632	.|N	.|0.776134	T|T	0.12689|0.12689	0.0308|0.0308	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B	.|0.27823	.|0.19	.|B	.|0.20955	.|0.032	T|T	0.37641|0.37641	-0.9697|-0.9697	5|10	.|0.02654	.|T	.|1	-7.1221|-7.1221	4.2604|4.2604	0.10739|0.10739	0.545:0.1698:0.2852:0.0|0.545:0.1698:0.2852:0.0	.|.	.|372	.|Q9NS91	.|RAD18_HUMAN	R|E	8|372	.|ENSP00000264926:V372E	.|ENSP00000264926:V372E	S|V	-|-	3|2	2|0	RAD18|RAD18	8919117|8919117	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	0.250000|0.250000	0.18235|0.18235	-0.296000|-0.296000	0.08947|0.08947	0.460000|0.460000	0.39030|0.39030	AGT|GTA		0.308	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		4	61	0	0	0	1	0	4	61				
PIK3R4	30849	broad.mit.edu	37	3	130400403	130400403	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:130400403C>G	ENST00000356763.3	-	17	4197	c.3640G>C	c.(3640-3642)Gac>Cac	p.D1214H	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1214					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTCTCCATGTCCCACATGGAC	0.423																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(3640-3642)Gac>Cac		phosphoinositide-3-kinase, regulatory subunit 4							105.0	103.0	104.0					3																	130400403		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130400403C>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3640G>C	3.37:g.130400403C>G	ENSP00000349205:p.Asp1214His		Somatic				PIK3R4_ENST00000512677.1_5'UTR	p.D1214H	NM_014602.2	NP_055417.1	WXS	Illumina GAIIx	Phase_I	Q99570	PI3R4_HUMAN			17	4197	-			1214					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.3640G>C	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648742	0.87958	.	.	ENSG00000196455	ENST00000356763	T	0.02472	4.28	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.00021	-1.2344	10	0.72032	D	0.01	-32.5605	20.3166	0.98654	0.0:1.0:0.0:0.0	.	1214	Q99570	PI3R4_HUMAN	H	1214	ENSP00000349205:D1214H	ENSP00000349205:D1214H	D	-	1	0	PIK3R4	131883093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.877000	0.69675	2.809000	0.96659	0.558000	0.71614	GAC		0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		16	201	0	0	0	1	0	16	201				
XRN1	54464	broad.mit.edu	37	3	142054353	142054353	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:142054353T>A	ENST00000264951.4	-	34	3995		c.e34-2		XRN1_ENST00000392981.2_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTCTTTAACTAGAGACAAGA	0.313																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.e34-2		5'-3' exoribonuclease 1							87.0	91.0	90.0					3																	142054353		2201	4300	6501	SO:0001630	splice_region_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142054353T>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3878-2A>T	3.37:g.142054353T>A			Somatic				XRN1_ENST00000392981.2_Splice_Site		NM_019001.3	NP_061874.3	WXS	Illumina GAIIx	Phase_I	Q8IZH2	XRN1_HUMAN			34	3995	-								Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Splice_Site	SNP	ENST00000264951.4	37		CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223578	0.39300	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3371	0.60524	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRN1	143537043	1.000000	0.71417	0.992000	0.48379	0.588000	0.36517	4.337000	0.59310	2.038000	0.60285	0.455000	0.32223	.		0.313	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	Intron	4	36	0	0	0	1	0	4	36				
ANKMY1	51281	broad.mit.edu	37	2	241465702	241465702	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:241465702A>G	ENST00000272972.3	-	5	1061	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.F283L|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.F372L|ANKMY1_ENST00000405523.3_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	283							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCACTAGCAAAGTTGTCCTTC	0.562																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(847-849)Ttt>Ctt		ankyrin repeat and MYND domain containing 1							167.0	147.0	154.0					2																	241465702		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241465702A>G	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.847T>C	2.37:g.241465702A>G	ENSP00000272972:p.Phe283Leu		Somatic				ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.F283L|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.F372L	p.F283L			WXS	Illumina GAIIx	Phase_I	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	6	1213	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	283					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.847T>C	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	A	1.353	-0.590995	0.03799	.	.	ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804	T;T;T	0.33216	1.42;1.42;1.42	4.11	-0.32	0.12721	Ankyrin repeat-containing domain (4);	0.501265	0.17058	N	0.188657	T	0.07503	0.0189	N	0.01109	-1.01	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30327	-0.9982	10	0.21014	T	0.42	-8.5545	3.3393	0.07113	0.4881:0.0:0.3242:0.1877	.	283;283	Q4ZFV3;Q9P2S6	.;ANKY1_HUMAN	L	283;283;372	ENSP00000272972:F283L;ENSP00000375847:F283L;ENSP00000385887:F372L	ENSP00000272972:F283L	F	-	1	0	ANKMY1	241114375	0.034000	0.19679	0.001000	0.08648	0.034000	0.12701	0.810000	0.27183	-0.038000	0.13624	0.482000	0.46254	TTT		0.562	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		31	57	0	0	0	1	0	31	57				
PRR12	57479	broad.mit.edu	37	19	50098148	50098148	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:50098148C>A	ENST00000418929.2	+	4	568	c.556C>A	c.(556-558)Cat>Aat	p.H186N		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGTCCCCTCATGACGTGCT	0.687																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(556-558)Cat>Aat		proline rich 12							25.0	28.0	27.0					19																	50098148		1960	4136	6096	SO:0001583	missense	57479						DNA binding	g.chr19:50098148C>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.556C>A	19.37:g.50098148C>A	ENSP00000394510:p.His186Asn		Somatic					p.H186N	NM_020719.1	NP_065770.1	WXS	Illumina GAIIx	Phase_I	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	568	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	598			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.556C>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886799	0.33348	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.78717	0.4327	.	.	.	0.37107	D	0.900153	D	0.67145	0.996	D	0.76071	0.987	D	0.84652	0.0701	7	0.72032	D	0.01	.	15.4155	0.74962	0.0:1.0:0.0:0.0	.	186	Q9ULL5-3	.	N	186	.	ENSP00000394510:H186N	H	+	1	0	PRR12	54789960	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	5.447000	0.66606	2.252000	0.74401	0.563000	0.77884	CAT		0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		5	7	1	0	0.217242	1	0.220346	5	7				
BCORL1	63035	broad.mit.edu	37	X	129149349	129149349	+	Silent	SNP	G	G	A	rs147051252	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:129149349G>A	ENST00000218147.7	+	4	2798	c.2601G>A	c.(2599-2601)tcG>tcA	p.S867S	BCORL1_ENST00000303743.5_Silent_p.S867S|BCORL1_ENST00000359304.2_Silent_p.S867S|BCORL1_ENST00000540052.1_Silent_p.S867S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	867					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCGTTGTTTCGGAGTTTTCTG	0.642													G|||	8	0.00211921	0.0061	0.0	3775	,	,		12276	0.0		0.0	False		,,,				2504	0.0					ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2599-2601)tcG>tcA		BCL6 corepressor-like 1		G		20,3815		0,18,2,1614,569	43.0	42.0	42.0		2601	-8.0	0.9	X	dbSNP_134	42	0,6727		0,0,0,2428,1871	no	coding-synonymous	BCORL1	NM_021946.4		0,18,2,4042,2440	AA,AG,A,GG,G		0.0,0.5215,0.1894		867/1712	129149349	20,10542	2203	4299	6502	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149349G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2601G>A	X.37:g.129149349G>A			Somatic				BCORL1_ENST00000303743.5_Silent_p.S867S|BCORL1_ENST00000359304.2_Silent_p.S867S|BCORL1_ENST00000218147.7_Silent_p.S867S	p.S867S	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	2645	+			867					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2601G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.938164	0.00484	0.005215	0.0	ENSG00000085185	ENST00000441294	.	.	.	5.1	-8.01	0.01122	.	.	.	.	.	T	0.27134	0.0665	.	.	.	0.40013	D	0.975315	.	.	.	.	.	.	T	0.40021	-0.9585	4	.	.	.	-13.9914	2.4364	0.04484	0.3029:0.2534:0.3381:0.1056	.	.	.	.	R	303	.	.	G	+	1	0	BCORL1	128977030	0.000000	0.05858	0.885000	0.34714	0.147000	0.21601	-2.522000	0.00950	-1.288000	0.02378	-3.151000	0.00058	GGA		0.642	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	79	0	0	0	1	0	4	79				
UBR4	23352	broad.mit.edu	37	1	19482017	19482017	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:19482017T>C	ENST00000375254.3	-	43	6245	c.6218A>G	c.(6217-6219)cAg>cGg	p.Q2073R	UBR4_ENST00000375267.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375226.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375217.2_Missense_Mutation_p.Q2073R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2073					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCCATAAGCTGAGTATAGAT	0.448																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6217-6219)cAg>cGg		ubiquitin protein ligase E3 component n-recognin 4							95.0	87.0	89.0					1																	19482017		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19482017T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6218A>G	1.37:g.19482017T>C	ENSP00000364403:p.Gln2073Arg		Somatic				UBR4_ENST00000375217.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375226.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375254.3_Missense_Mutation_p.Q2073R	p.Q2073R			WXS	Illumina GAIIx	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	43	6221	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2073					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.6218A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726507	0.89298	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	M	0.85945	2.785	0.80722	D	1	D;P	0.56035	0.974;0.851	P;P	0.56216	0.794;0.775	T	0.47837	-0.9086	10	0.72032	D	0.01	.	14.9281	0.70896	0.0:0.0:0.0:1.0	.	2073;2073	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	R	2073;2073;2073;2073;783;1289	ENSP00000364403:Q2073R;ENSP00000364416:Q2073R;ENSP00000364365:Q2073R;ENSP00000364374:Q2073R	ENSP00000364365:Q2073R	Q	-	2	0	UBR4	19354604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.330000	0.79181	2.112000	0.64535	0.528000	0.53228	CAG		0.448	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		3	217	0	0	0	1	0	3	217				
SSUH2	51066	broad.mit.edu	37	3	8673776	8673776	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:8673776C>A	ENST00000317371.4	-	12	1518	c.293G>T	c.(292-294)aGt>aTt	p.S98I	SSUH2_ENST00000544814.1_Missense_Mutation_p.S120I|SSUH2_ENST00000415132.1_Missense_Mutation_p.S98I|SSUH2_ENST00000341795.3_Missense_Mutation_p.S98I			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	98						cytoplasm (GO:0005737)											CCTGGATTCACTAAAGGTCTC	0.423																																						ENST00000317371.4																			0											c.(292-294)aGt>aTt		ssu-2 homolog (C. elegans)							96.0	92.0	93.0					3																	8673776		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8673776C>A	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.293G>T	3.37:g.8673776C>A	ENSP00000324551:p.Ser98Ile		Somatic				SSUH2_ENST00000544814.1_Missense_Mutation_p.S120I|SSUH2_ENST00000341795.3_Missense_Mutation_p.S98I|SSUH2_ENST00000415132.1_Missense_Mutation_p.S98I	p.S98I			WXS	Illumina GAIIx	Phase_I					12	1518	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.293G>T	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914881	0.52546	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.46819	0.98;0.98;0.98;1.0;0.86	5.17	4.29	0.51040	.	0.248953	0.44285	D	0.000471	T	0.35158	0.0922	L	0.48642	1.525	0.34993	D	0.755243	B;P	0.45474	0.156;0.859	B;B	0.37304	0.106;0.246	T	0.48703	-0.9012	10	0.33141	T	0.24	-26.282	8.6627	0.34101	0.0:0.8985:0.0:0.1015	.	120;98	F5H2S5;Q9Y2M2	.;CC032_HUMAN	I	98;98;98;120;120	ENSP00000339150:S98I;ENSP00000324551:S98I;ENSP00000410757:S98I;ENSP00000439378:S120I;ENSP00000401289:S120I	ENSP00000324551:S98I	S	-	2	0	C3orf32	8648776	0.881000	0.30235	0.961000	0.40146	0.964000	0.63967	1.321000	0.33678	2.414000	0.81942	0.467000	0.42956	AGT		0.423	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		46	51	1	0	6.176e-18	1	6.71167e-18	46	51				
TGM5	9333	broad.mit.edu	37	15	43552757	43552757	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:43552757C>A	ENST00000220420.5	-	2	38	c.31G>T	c.(31-33)Gac>Tac	p.D11Y	TGM5_ENST00000349114.4_Missense_Mutation_p.D11Y	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	11					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCTGGAGGTCTGTGAGGGCC	0.562																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(31-33)Gac>Tac		transglutaminase 5	L-Glutamine(DB00130)						92.0	96.0	95.0					15																	43552757		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552757C>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.31G>T	15.37:g.43552757C>A	ENSP00000220420:p.Asp11Tyr		Somatic				TGM5_ENST00000349114.4_Missense_Mutation_p.D11Y	p.D11Y	NM_201631.3	NP_963925.2	WXS	Illumina GAIIx	Phase_I	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	38	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	11					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.31G>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533749	0.64972	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.90261	-2.64;-2.64	5.64	4.67	0.58626	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.104767	0.64402	D	0.000005	D	0.95793	0.8631	M	0.90082	3.085	0.28476	N	0.915166	D;D	0.89917	0.998;1.0	D;D	0.85130	0.952;0.997	D	0.91135	0.4941	10	0.87932	D	0	-35.0121	13.7541	0.62926	0.0:0.8448:0.1552:0.0	.	11;11	O43548-2;O43548	.;TGM5_HUMAN	Y	11;11;10	ENSP00000220420:D11Y;ENSP00000220419:D11Y	ENSP00000220420:D11Y	D	-	1	0	TGM5	41340049	0.996000	0.38824	0.990000	0.47175	0.706000	0.40770	3.463000	0.53050	2.664000	0.90586	0.555000	0.69702	GAC		0.562	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		104	225	1	0	1.66635e-27	1	1.82955e-27	104	225				
DNAH5	1767	broad.mit.edu	37	5	13865955	13865955	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:13865955C>A	ENST00000265104.4	-	27	4281	c.4177G>T	c.(4177-4179)Ggc>Tgc	p.G1393C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1393	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGGCAGGCCAAAAAGCTCC	0.333									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4177-4179)Ggc>Tgc		dynein, axonemal, heavy chain 5							54.0	59.0	58.0					5																	13865955		2202	4298	6500	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13865955C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4177G>T	5.37:g.13865955C>A	ENSP00000265104:p.Gly1393Cys		Somatic				CTB-51A17.1_ENST00000503244.1_RNA	p.G1393C	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			27	4281	-	Lung NSC(4;0.00476)		1393			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4177G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502809	0.85176	.	.	ENSG00000039139	ENST00000265104	T	0.26957	1.7	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.90650	3.135	0.80722	D	1	D	0.58970	0.984	D	0.67382	0.951	T	0.65957	-0.6042	10	0.66056	D	0.02	.	20.5605	0.99326	0.0:1.0:0.0:0.0	.	1393	Q8TE73	DYH5_HUMAN	C	1393	ENSP00000265104:G1393C	ENSP00000265104:G1393C	G	-	1	0	DNAH5	13918955	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	7.811000	0.86092	2.868000	0.98415	0.637000	0.83480	GGC		0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		23	30	1	0	0.01892	1	0.019563	23	30				
CXorf66	347487	broad.mit.edu	37	X	139038732	139038732	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:139038732A>T	ENST00000370540.1	-	3	432	c.409T>A	c.(409-411)Tta>Ata	p.L137I		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	137	Ser-rich.					integral component of membrane (GO:0016021)		p.L137I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTCTGATTAATTTTTCTGTG	0.438																																						ENST00000370540.1																			1	Substitution - Missense(1)	p.L137I(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(409-411)Tta>Ata		chromosome X open reading frame 66							265.0	224.0	238.0					X																	139038732		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038732A>T		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.409T>A	X.37:g.139038732A>T	ENSP00000359571:p.Leu137Ile		Somatic					p.L137I	NM_001013403.2	NP_001013421.1	WXS	Illumina GAIIx	Phase_I	Q5JRM2	CX066_HUMAN			3	432	-			137			Ser-rich.			Missense_Mutation	SNP	ENST00000370540.1	37	c.409T>A	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183136	0.38511	.	.	ENSG00000203933	ENST00000370540	T	0.50001	0.76	3.81	-6.62	0.01813	.	2.018840	0.03041	N	0.153365	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	B	0.33044	0.395	B	0.32289	0.143	T	0.09079	-1.0691	9	.	.	.	-0.5749	0.4062	0.00433	0.2657:0.1394:0.196:0.3989	.	137	Q5JRM2	CX066_HUMAN	I	137	ENSP00000359571:L137I	.	L	-	1	2	CXorf66	138866398	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.066000	0.03454	-1.531000	0.01749	0.446000	0.29264	TTA		0.438	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		6	582	0	0	0	1	0	6	582				
ARID1A	8289	broad.mit.edu	37	1	27097703	27097703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:27097703C>T	ENST00000324856.7	+	12	3663	c.3292C>T	c.(3292-3294)Cag>Tag	p.Q1098*	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1098*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q715*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1098	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGTATATCCAGTGTCTCTA	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3292-3294)Cag>Tag		AT rich interactive domain 1A (SWI-like)							91.0	82.0	85.0					1																	27097703		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27097703C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3292C>T	1.37:g.27097703C>T	ENSP00000320485:p.Gln1098*		Somatic				ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q715*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1098*	p.Q1098*	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	12	3663	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1098			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3292C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	43	9.856913	0.99281	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-6.1526	19.4303	0.94760	0.0:1.0:0.0:0.0	.	.	.	.	X	1098;1098;715	.	ENSP00000320485:Q1098X	Q	+	1	0	ARID1A	26970290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.830000	0.97506	0.655000	0.94253	CAG		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	133	0	0	0	1	0	7	133				
GJD2	57369	broad.mit.edu	37	15	35045023	35045023	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:35045023C>T	ENST00000290374.4	-	2	1098	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	208					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATTTCCAGGGCATTTCGGAAC	0.502																																						ENST00000290374.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(622-624)Gcc>Acc		gap junction protein, delta 2, 36kDa							91.0	90.0	90.0					15																	35045023		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045023C>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.622G>A	15.37:g.35045023C>T	ENSP00000290374:p.Ala208Thr		Somatic					p.A208T	NM_020660.2	NP_065711.1	WXS	Illumina GAIIx	Phase_I	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	1098	-		all_lung(180;9.67e-07)	208					Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.622G>A	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165323	0.57476	.	.	ENSG00000159248	ENST00000290374	D	0.98192	-4.78	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000003	D	0.96046	0.8712	L	0.34521	1.04	0.80722	D	1	P	0.44429	0.835	B	0.38500	0.275	D	0.95412	0.8499	10	0.37606	T	0.19	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	208	Q9UKL4	CXD2_HUMAN	T	208	ENSP00000290374:A208T	ENSP00000290374:A208T	A	-	1	0	GJD2	32832315	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	GCC		0.502	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			30	82	0	0	0	1	0	30	82				
TMEM184C	55751	broad.mit.edu	37	4	148555434	148555434	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:148555434C>T	ENST00000296582.3	+	10	1740	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	389						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						ATTGCTTCTTCTATGCCACCT	0.418																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1165-1167)tCt>tTt		transmembrane protein 184C							109.0	98.0	102.0					4																	148555434		2203	4300	6503	SO:0001583	missense	55751					integral to membrane		g.chr4:148555434C>T	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1166C>T	4.37:g.148555434C>T	ENSP00000296582:p.Ser389Phe		Somatic				TMEM184C_ENST00000508208.1_Intron	p.S389F	NM_018241.2	NP_060711.2	WXS	Illumina GAIIx	Phase_I	Q9NVA4	T184C_HUMAN			10	1740	+			389					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.1166C>T	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799512	0.70567	.	.	ENSG00000164168	ENST00000296582	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59865	0.2225	L	0.45581	1.43	0.80722	D	1	B	0.24533	0.105	B	0.19666	0.026	T	0.55976	-0.8055	9	0.52906	T	0.07	-27.8557	20.1253	0.97977	0.0:1.0:0.0:0.0	.	389	Q9NVA4	T184C_HUMAN	F	389	.	ENSP00000296582:S389F	S	+	2	0	TMEM184C	148774884	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	4.624000	0.61254	2.832000	0.97577	0.655000	0.94253	TCT		0.418	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		45	332	0	0	0	1	0	45	332				
BCORL1	63035	broad.mit.edu	37	X	129147038	129147038	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:129147038C>G	ENST00000218147.7	+	4	487	c.290C>G	c.(289-291)cCa>cGa	p.P97R	BCORL1_ENST00000303743.5_Missense_Mutation_p.P97R|BCORL1_ENST00000359304.2_Missense_Mutation_p.P97R|BCORL1_ENST00000540052.1_Missense_Mutation_p.P97R			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	97					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GATCCCCAGCCAAAAATGGAC	0.602																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(289-291)cCa>cGa		BCL6 corepressor-like 1							46.0	43.0	44.0					X																	129147038		2201	4298	6499	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147038C>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.290C>G	X.37:g.129147038C>G	ENSP00000218147:p.Pro97Arg		Somatic				BCORL1_ENST00000303743.5_Missense_Mutation_p.P97R|BCORL1_ENST00000359304.2_Missense_Mutation_p.P97R|BCORL1_ENST00000218147.7_Missense_Mutation_p.P97R|BCORL1_ENST00000488135.1_3'UTR	p.P97R	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	334	+			97					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.290C>G	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.754120	0.31046	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.44083	0.94;1.3;0.93;0.94	5.28	4.36	0.52297	.	0.000000	0.35013	N	0.003504	T	0.24392	0.0591	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09796	-1.0658	10	0.40728	T	0.16	-1.1436	8.9885	0.36008	0.1641:0.6798:0.1561:0.0	.	97	Q5H9F3	BCORL_HUMAN	R	97	ENSP00000218147:P97R;ENSP00000307541:P97R;ENSP00000352253:P97R;ENSP00000437775:P97R	ENSP00000218147:P97R	P	+	2	0	BCORL1	128974719	0.894000	0.30519	0.678000	0.29963	0.923000	0.55619	1.612000	0.36889	2.203000	0.70933	0.529000	0.55759	CCA		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	94	0	0	0	1	0	3	94				
LAMA2	3908	broad.mit.edu	37	6	129722454	129722454	+	Missense_Mutation	SNP	G	G	A	rs150691000	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:129722454G>A	ENST00000421865.2	+	38	5580	c.5531G>A	c.(5530-5532)cGt>cAt	p.R1844H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1844	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1844H(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGCCAACCGTCTTGCAGAT	0.403													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		20433	0.0		0.0	False		,,,				2504	0.0					ENST00000421865.2																			1	Substitution - Missense(1)	p.R1844H(1)	endometrium(1)	NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(5530-5532)cGt>cAt		laminin, alpha 2		G	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	128.0	123.0	125.0		5531,5531	3.5	1.0	6	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	29,29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign,benign	1844/3123,1844/3119	129722454	4,13002	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129722454G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5531G>A	6.37:g.129722454G>A	ENSP00000400365:p.Arg1844His		Somatic					p.R1844H	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	38	5580	+			1844			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5531G>A	CCDS5138.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	13.15	2.151242	0.38021	6.81E-4	1.16E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.23754	1.89	5.28	3.46	0.39613	Laminin I (1);	0.586969	0.17927	N	0.157316	T	0.04998	0.0134	N	0.14661	0.345	0.26792	N	0.969381	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.27400	-1.0075	10	0.44086	T	0.13	.	6.5772	0.22573	0.3663:0.0:0.6337:0.0	.	1844;1844	A6NF00;P24043	.;LAMA2_HUMAN	H	1844	ENSP00000400365:R1844H	ENSP00000346769:R1844H	R	+	2	0	LAMA2	129764147	0.025000	0.19082	0.997000	0.53966	0.822000	0.46500	0.993000	0.29680	1.349000	0.45751	0.655000	0.94253	CGT		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	242	0	0	0	1	0	4	242				
PTPN22	26191	broad.mit.edu	37	1	114394727	114394727	+	Splice_Site	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:114394727C>A	ENST00000359785.5	-	10	886		c.e10-1		PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Splice_Site|PTPN22_ENST00000538253.1_Splice_Site	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGAATTATCTATCAAATTA	0.348																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.e10-1		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							48.0	46.0	47.0					1																	114394727		2202	4300	6502	SO:0001630	splice_region_variant	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114394727C>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.751-1G>T	1.37:g.114394727C>A			Somatic				PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Splice_Site|PTPN22_ENST00000538253.1_Splice_Site		NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	WXS	Illumina GAIIx	Phase_I	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	886	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)						A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Splice_Site	SNP	ENST00000359785.5	37		CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782141	0.70222	.	.	ENSG00000134242	ENST00000359785;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6773	0.91532	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN22	114196250	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.106000	0.77039	2.716000	0.92895	0.561000	0.74099	.		0.348	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	Intron	3	17	1	0	1	1	1	3	17				
ERBB4	2066	broad.mit.edu	37	2	212530141	212530141	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:212530141C>A	ENST00000342788.4	-	15	2088	c.1778G>T	c.(1777-1779)tGt>tTt	p.C593F	ERBB4_ENST00000402597.1_Missense_Mutation_p.C593F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C593F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	593	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCCATCTGGACATTTTTCCAC	0.428										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(1777-1779)tGt>tTt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							129.0	117.0	121.0					2																	212530141		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530141C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1778G>T	2.37:g.212530141C>A	ENSP00000342235:p.Cys593Phe	TSP Lung(8;0.080)	Somatic				ERBB4_ENST00000436443.1_Missense_Mutation_p.C593F|ERBB4_ENST00000402597.1_Missense_Mutation_p.C593F	p.C593F	NM_005235.2	NP_005226.1	WXS	Illumina GAIIx	Phase_I	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	2088	-		Renal(323;0.06)|Lung NSC(271;0.197)	593			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1778G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.486145|4.486145	0.84854|0.84854	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.66460|.	-0.21;-0.21;-0.21|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90665|0.90665	0.7072|0.7072	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.998;1.0;1.0;0.998;0.996|.	D;D;D;D;D|.	0.91635|.	0.976;0.999;0.994;0.981;0.957|.	D|D	0.93918|0.93918	0.7203|0.7203	9|5	.|.	.|.	.|.	.|.	19.2295|19.2295	0.93833|0.93833	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	593;593;452;593;593|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	F|F	593|593	ENSP00000342235:C593F;ENSP00000403204:C593F;ENSP00000385565:C593F|.	.|.	C|V	-|-	2|1	0|0	ERBB4|ERBB4	212238386|212238386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.770000|7.770000	0.85390|0.85390	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.428	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		32	155	1	0	8.4185e-14	1	8.96571e-14	32	155				
KLF17	128209	broad.mit.edu	37	1	44596402	44596402	+	Missense_Mutation	SNP	G	G	T	rs540269615		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:44596402G>T	ENST00000372299.3	+	3	1202	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y		NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	382					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGAGAGCAGGACAGTCCTCC	0.502																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(1144-1146)Gac>Tac		Kruppel-like factor 17							101.0	78.0	86.0					1																	44596402		2203	4300	6503	SO:0001583	missense	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44596402G>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.1144G>T	1.37:g.44596402G>T	ENSP00000361373:p.Asp382Tyr		Somatic					p.D382Y	NM_173484.3	NP_775755.3	WXS	Illumina GAIIx	Phase_I	Q5JT82	KLF17_HUMAN			3	1202	+	Acute lymphoblastic leukemia(166;0.155)		382					Q86VQ7|Q8N805	Missense_Mutation	SNP	ENST00000372299.3	37	c.1144G>T	CCDS508.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202456	0.38905	.	.	ENSG00000171872	ENST00000372299	T	0.10288	2.89	4.47	1.44	0.22558	.	1.085760	0.07262	N	0.867668	T	0.12987	0.0315	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	P	0.56865	0.808	T	0.38520	-0.9657	10	0.49607	T	0.09	.	7.7948	0.29141	0.0:0.3414:0.4822:0.1763	.	382	Q5JT82	KLF17_HUMAN	Y	382	ENSP00000361373:D382Y	ENSP00000361373:D382Y	D	+	1	0	KLF17	44368989	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.191000	0.17076	0.342000	0.23796	0.561000	0.74099	GAC		0.502	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		55	78	1	0	2.31391e-43	1	2.56699e-43	55	78				
SAP130	79595	broad.mit.edu	37	2	128757928	128757928	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:128757928G>A	ENST00000259235.3	-	8	1177	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	SAP130_ENST00000259234.6_Missense_Mutation_p.H324Y|SAP130_ENST00000357702.5_Missense_Mutation_p.H350Y	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	350					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AATGCAGGGTGAGATGGTAGT	0.473																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1048-1050)Cac>Tac		Sin3A-associated protein, 130kDa							329.0	289.0	303.0					2																	128757928		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128757928G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1048C>T	2.37:g.128757928G>A	ENSP00000259235:p.His350Tyr		Somatic				SAP130_ENST00000259234.6_Missense_Mutation_p.H324Y|SAP130_ENST00000259235.3_Missense_Mutation_p.H350Y	p.H350Y	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	8	1179	-	Colorectal(110;0.1)		350					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1048C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672838	0.67928	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	L	0.29908	0.895	0.58432	D	0.999998	D;B;P	0.71674	0.998;0.161;0.617	D;B;B	0.80764	0.994;0.107;0.225	T	0.56414	-0.7983	9	0.02654	T	1	-15.5909	14.6047	0.68469	0.0699:0.0:0.9301:0.0	.	350;323;350	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	Y	350;350;324	.	ENSP00000259234:H324Y	H	-	1	0	SAP130	128474398	1.000000	0.71417	0.975000	0.42487	0.998000	0.95712	7.104000	0.77024	1.405000	0.46838	0.650000	0.86243	CAC		0.473	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		180	633	0	0	0	1	0	180	633				
HLF	3131	broad.mit.edu	37	17	53398085	53398085	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:53398085G>A	ENST00000226067.5	+	4	1206	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	HLF_ENST00000575345.1_Missense_Mutation_p.A160T|HLF_ENST00000430986.2_Missense_Mutation_p.A160T|HLF_ENST00000573945.1_Missense_Mutation_p.A160T|HLF_ENST00000575307.1_3'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	245	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						CTCCCGCGACGCCCGGAGGCT	0.557			T	TCF3	ALL																																	ENST00000226067.5				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(733-735)Gcc>Acc		hepatic leukemia factor							34.0	39.0	37.0					17																	53398085		2203	4299	6502	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53398085G>A		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.733G>A	17.37:g.53398085G>A	ENSP00000226067:p.Ala245Thr		Somatic				HLF_ENST00000575307.1_3'UTR|HLF_ENST00000575345.1_Missense_Mutation_p.A160T|HLF_ENST00000573945.1_Missense_Mutation_p.A160T|HLF_ENST00000430986.2_Missense_Mutation_p.A160T	p.A245T	NM_002126.4	NP_002117.1	WXS	Illumina GAIIx	Phase_I	Q16534	HLF_HUMAN			4	1206	+			245					A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.733G>A	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714179	0.89112	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.45276	0.9;0.9	5.64	5.64	0.86602	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79410	-0.1815	10	0.87932	D	0	.	18.6863	0.91565	0.0:0.0:1.0:0.0	.	193;245	B4DIQ5;Q16534	.;HLF_HUMAN	T	245;160	ENSP00000226067:A245T;ENSP00000402496:A160T	ENSP00000226067:A245T	A	+	1	0	HLF	50753084	1.000000	0.71417	0.988000	0.46212	0.156000	0.22039	9.469000	0.97679	2.659000	0.90383	0.563000	0.77884	GCC		0.557	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		15	67	0	0	0	1	0	15	67				
ANTXR1	84168	broad.mit.edu	37	2	69399514	69399514	+	Intron	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:69399514T>A	ENST00000303714.4	+	14	1411				ANTXR1_ENST00000409349.3_Nonstop_Mutation_p.*369K	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1						actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAAAATAAAATAACAAGAAGA	0.383									Familial Infantile Hemangioma																													ENST00000409349.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1105-1107)Taa>Aaa		anthrax toxin receptor 1							69.0	66.0	67.0					2																	69399514		1828	4091	5919	SO:0001627	intron_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69399514T>A	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1089+2093T>A	2.37:g.69399514T>A			Somatic				ANTXR1_ENST00000303714.4_Intron	p.*369K	NM_053034.2	NP_444262.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			15	1208	+			0					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Nonstop_Mutation	SNP	ENST00000303714.4	37	c.1105T>A	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.528579	0.00959	.	.	ENSG00000169604	ENST00000409349	.	.	.	0.235	-0.47	0.12131	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	K	369	.	.	X	+	1	0	ANTXR1	69253018	0.001000	0.12720	0.006000	0.13384	0.015000	0.08874	-1.052000	0.03503	-0.717000	0.04955	-0.708000	0.03648	TAA		0.383	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		4	86	0	0	0	1	0	4	86				
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:23180386A>T	ENST00000339077.5	+	5	685		c.e5-1		KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000322231.7_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e6-1		kelch-like family member 7							59.0	59.0	59.0					7																	23180386		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180386A>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.443-1A>T	7.37:g.23180386A>T			Somatic				KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000339077.4_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			6	866	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37		CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334168	0.41297	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL7	23146911	1.000000	0.71417	0.978000	0.43139	0.327000	0.28475	8.606000	0.90888	2.032000	0.59987	0.379000	0.24179	.		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Intron	8	114	0	0	0	1	0	8	114				
SPINT1	6692	broad.mit.edu	37	15	41136788	41136788	+	Silent	SNP	C	C	T	rs557336289		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:41136788C>T	ENST00000344051.4	+	2	270	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RP11-532F12.5_ENST00000564302.1_RNA|RP11-532F12.5_ENST00000568525.1_RNA|RP11-532F12.5_ENST00000565315.1_RNA|SPINT1_ENST00000431806.1_Silent_p.L12L|SPINT1_ENST00000562057.1_Silent_p.L12L|RP11-532F12.5_ENST00000568419.1_RNA			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	12					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)		gcgcccgcctcgccccggccg	0.766													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11949	0.0		0.0	False		,,,				2504	0.0					ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(34-36)ctC>ctT		serine peptidase inhibitor, Kunitz type 1							10.0	12.0	12.0					15																	41136788		1883	3690	5573	SO:0001819	synonymous_variant	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41136788C>T		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.36C>T	15.37:g.41136788C>T			Somatic				SPINT1_ENST00000431806.1_Silent_p.L12L|SPINT1_ENST00000562057.1_Silent_p.L12L	p.L12L			WXS	Illumina GAIIx	Phase_I	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	2	270	+		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)	12					Q7Z7D2	Silent	SNP	ENST00000344051.4	37	c.36C>T	CCDS10067.1																																																																																				0.766	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		7	5	0	0	0	1	0	7	5				
UMODL1	89766	broad.mit.edu	37	21	43529671	43529671	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr21:43529671G>A	ENST00000408910.2	+	10	1519		c.e10-1		UMODL1_ENST00000400424.2_Splice_Site|UMODL1_ENST00000400427.1_Splice_Site|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Splice_Site	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCCTGGCAGACTGGGACGA	0.577																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.e10-1		uromodulin-like 1							91.0	102.0	98.0					21																	43529671		2039	4184	6223	SO:0001630	splice_region_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43529671G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1520-1G>A	21.37:g.43529671G>A			Somatic				UMODL1_ENST00000408910.2_Splice_Site|UMODL1_ENST00000400424.1_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site		NM_001199527.1	NP_001186456.1	WXS	Illumina GAIIx	Phase_I	Q5DID0	UROL1_HUMAN			10	1699	+								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Splice_Site	SNP	ENST00000408910.2	37		CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086695	0.55861	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	.	.	.	3.04	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8362	0.40971	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UMODL1	42402740	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	4.250000	0.58772	2.013000	0.59113	0.655000	0.94253	.		0.577	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		Intron	29	73	0	0	0	1	0	29	73				
CCDC97	90324	broad.mit.edu	37	19	41825575	41825575	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:41825575C>T	ENST00000269967.3	+	3	721	c.599C>T	c.(598-600)gCc>gTc	p.A200V		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	200										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GAGCTCAGTGCCCGCACCCCA	0.652																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(598-600)gCc>gTc		coiled-coil domain containing 97							63.0	67.0	66.0					19																	41825575		2203	4300	6503	SO:0001583	missense	90324							g.chr19:41825575C>T	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.599C>T	19.37:g.41825575C>T	ENSP00000269967:p.Ala200Val		Somatic					p.A200V	NM_052848.1	NP_443080.1	WXS	Illumina GAIIx	Phase_I	Q96F63	CCD97_HUMAN			3	721	+			200					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.599C>T	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172381	0.21704	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.41	4.41	0.53225	.	0.247728	0.32459	N	0.006068	T	0.53190	0.1781	L	0.54965	1.715	0.33830	D	0.630186	B	0.21753	0.06	B	0.25405	0.06	T	0.62374	-0.6868	9	0.34782	T	0.22	-1.0734	14.0229	0.64568	0.0:1.0:0.0:0.0	.	200	Q96F63	CCD97_HUMAN	V	200	.	ENSP00000269967:A200V	A	+	2	0	CCDC97	46517415	0.830000	0.29337	0.953000	0.39169	0.101000	0.19017	1.159000	0.31749	2.295000	0.77249	0.462000	0.41574	GCC		0.652	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		4	222	0	0	0	1	0	4	222				
LIPE	3991	broad.mit.edu	37	19	42912198	42912198	+	Missense_Mutation	SNP	C	C	T	rs376903518		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:42912198C>T	ENST00000244289.4	-	4	1862	c.1586G>A	c.(1585-1587)cGg>cAg	p.R529Q	LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	529					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGTGATCCGCTCAAACTC	0.602																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1585-1587)cGg>cAg		lipase, hormone-sensitive		C	GLN/ARG	0,4406		0,0,2203	90.0	78.0	82.0		1586	3.6	1.0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	LIPE	NM_005357.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	529/1077	42912198	1,13005	2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912198C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1586G>A	19.37:g.42912198C>T	ENSP00000244289:p.Arg529Gln		Somatic				LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.R529Q	NM_005357.2	NP_005348.2	WXS	Illumina GAIIx	Phase_I	Q05469	LIPS_HUMAN			4	1862	-		Prostate(69;0.00682)	529					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1586G>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606004	0.87157	0.0	1.16E-4	ENSG00000079435	ENST00000244289	T	0.34072	1.38	3.6	3.6	0.41247	Hormone-sensitive lipase, N-terminal (1);	0.000000	0.64402	D	0.000004	T	0.55289	0.1911	M	0.61703	1.905	0.50313	D	0.999868	D;D	0.89917	1.0;0.999	D;D	0.80764	0.978;0.994	T	0.58014	-0.7711	10	0.48119	T	0.1	-12.6325	14.5259	0.67887	0.0:1.0:0.0:0.0	.	529;529	A8K8W7;Q05469	.;LIPS_HUMAN	Q	529	ENSP00000244289:R529Q	ENSP00000244289:R529Q	R	-	2	0	LIPE	47604038	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.633000	0.61318	2.036000	0.60181	0.561000	0.74099	CGG		0.602	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		62	199	0	0	0	1	0	62	199				
SLC17A6	57084	broad.mit.edu	37	11	22364829	22364829	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:22364829A>C	ENST00000263160.3	+	3	813	c.376A>C	c.(376-378)Atg>Ctg	p.M126L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	126					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AACCGTGGGGATGATCCACGG	0.532																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(376-378)Atg>Ctg		solute carrier family 17 (vesicular glutamate transporter), member 6							96.0	104.0	101.0					11																	22364829		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22364829A>C	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.376A>C	11.37:g.22364829A>C	ENSP00000263160:p.Met126Leu		Somatic					p.M126L	NM_020346.2	NP_065079.1	WXS	Illumina GAIIx	Phase_I	Q9P2U8	VGLU2_HUMAN			3	813	+			126					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.376A>C	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	A	6.138	0.393638	0.11638	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.49720	0.77	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.164801	0.64402	D	0.000005	T	0.20455	0.0492	N	0.02169	-0.655	0.47476	D	0.999439	B	0.02656	0.0	B	0.06405	0.002	T	0.22906	-1.0203	10	0.02654	T	1	.	15.4324	0.75112	1.0:0.0:0.0:0.0	.	126	Q9P2U8	VGLU2_HUMAN	L	126;14	ENSP00000263160:M126L	ENSP00000263160:M126L	M	+	1	0	SLC17A6	22321405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.132000	0.50523	2.036000	0.60181	0.533000	0.62120	ATG		0.532	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		31	74	0	0	0	1	0	31	74				
NEB	4703	broad.mit.edu	37	2	152497182	152497182	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:152497182T>A	ENST00000172853.10	-	61	8521		c.e61-2		NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACTTGAACTAAAAGAAGAA	0.398																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.e61-2		nebulin							72.0	67.0	69.0					2																	152497182		1838	4081	5919	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152497182T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8374-2A>T	2.37:g.152497182T>A			Somatic				NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site		NM_001164507.1	NP_001157979.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8576	-								F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37			.	.	.	.	.	.	.	.	.	.	T	25.3	4.623791	0.87460	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152205428	1.000000	0.71417	0.984000	0.44739	0.886000	0.51366	7.991000	0.88244	2.371000	0.80710	0.533000	0.62120	.		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Intron	7	214	0	0	0	1	0	7	214				
SLC19A2	10560	broad.mit.edu	37	1	169438076	169438076	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:169438076T>A	ENST00000236137.5	-	4	1267		c.e4-2		SLC19A2_ENST00000367804.4_Splice_Site	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2						folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CAACAGCACCTACAGAACAAA	0.328																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.e4-2		solute carrier family 19 (thiamine transporter), member 2							70.0	69.0	69.0					1																	169438076		2203	4300	6503	SO:0001630	splice_region_variant	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169438076T>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1031-2A>T	1.37:g.169438076T>A			Somatic				SLC19A2_ENST00000367802.3_Splice_Site|SLC19A2_ENST00000367804.3_Splice_Site		NM_006996.2	NP_008927.1	WXS	Illumina GAIIx	Phase_I	O60779	S19A2_HUMAN			4	1267	-	all_hematologic(923;0.208)							B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Splice_Site	SNP	ENST00000236137.5	37		CCDS1280.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.655597	0.67586	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9708	0.80019	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC19A2	167704700	1.000000	0.71417	0.953000	0.39169	0.717000	0.41224	7.665000	0.83852	2.167000	0.68274	0.528000	0.53228	.		0.328	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996	Intron	5	132	0	0	0	1	0	5	132				
ASNSD1	54529	broad.mit.edu	37	2	190531590	190531590	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:190531590A>T	ENST00000260952.4	+	4	1145	c.732A>T	c.(730-732)ttA>ttT	p.L244F	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	244					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTGTTCCTTTAAATATGATGT	0.378																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(730-732)ttA>ttT		asparagine synthetase domain containing 1							80.0	85.0	83.0					2																	190531590		2201	4298	6499	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531590A>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.732A>T	2.37:g.190531590A>T	ENSP00000260952:p.Leu244Phe		Somatic				ASNSD1_ENST00000607062.1_Intron	p.L244F	NM_019048.2	NP_061921.1	WXS	Illumina GAIIx	Phase_I	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1145	+			244					D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.732A>T	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046263	0.36085	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.37235	1.22;1.21	6.17	3.81	0.43845	.	0.063724	0.64402	D	0.000011	T	0.30103	0.0754	M	0.62723	1.935	0.48571	D	0.999674	P	0.47106	0.89	B	0.38954	0.286	T	0.06391	-1.0829	10	0.30854	T	0.27	-14.5663	6.8627	0.24076	0.7437:0.1326:0.1237:0.0	.	244	Q9NWL6	ASND1_HUMAN	F	244	ENSP00000260952:L244F;ENSP00000406790:L244F	ENSP00000260952:L244F	L	+	3	2	ASNSD1	190239835	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.283000	0.33237	1.124000	0.41980	0.533000	0.62120	TTA		0.378	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		5	248	0	0	0	1	0	5	248				
MEGF8	1954	broad.mit.edu	37	19	42848626	42848626	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:42848626C>A	ENST00000251268.6	+	11	1822	c.1822C>A	c.(1822-1824)Ctc>Atc	p.L608I	MEGF8_ENST00000334370.4_Missense_Mutation_p.L608I	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	608	PSI 1.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGGGCCGCCTCCTGGGTGA	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1822-1824)Ctc>Atc		multiple EGF-like-domains 8							25.0	30.0	28.0					19																	42848626		2201	4296	6497	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848626C>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1822C>A	19.37:g.42848626C>A	ENSP00000251268:p.Leu608Ile		Somatic				MEGF8_ENST00000251268.6_Missense_Mutation_p.L608I	p.L608I	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			11	2457	+		Prostate(69;0.00682)	608			PSI 1.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.1822C>A		.	.	.	.	.	.	.	.	.	.	C	15.56	2.871153	0.51695	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.05;2.05	4.85	4.85	0.62838	.	0.286088	0.27792	N	0.017830	T	0.14013	0.0339	N	0.14661	0.345	0.80722	D	1	P;P	0.46512	0.826;0.879	B;B	0.40825	0.341;0.222	T	0.08249	-1.0731	10	0.30078	T	0.28	.	15.4477	0.75243	0.0:1.0:0.0:0.0	.	608;608	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	I	608	ENSP00000334219:L608I;ENSP00000251268:L608I	ENSP00000251268:L608I	L	+	1	0	MEGF8	47540466	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	5.239000	0.65371	2.251000	0.74343	0.306000	0.20318	CTC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		18	22	1	0	1.80694e-10	1	1.90534e-10	18	22				
PZP	5858	broad.mit.edu	37	12	9305466	9305466	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:9305466C>G	ENST00000261336.2	-	31	4103	c.4075G>C	c.(4075-4077)Gat>Cat	p.D1359H	PZP_ENST00000381997.2_Missense_Mutation_p.D1145H	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1359					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D1359N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGTGTCCATCGCAAGTTTGG	0.433																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			1	Substitution - Missense(1)	p.D1359N(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(4075-4077)Gat>Cat		pregnancy-zone protein							140.0	128.0	132.0					12																	9305466		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9305466C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4075G>C	12.37:g.9305466C>G	ENSP00000261336:p.Asp1359His		Somatic				PZP_ENST00000381997.2_Missense_Mutation_p.D1145H	p.D1359H	NM_002864.2	NP_002855.2	WXS	Illumina GAIIx	Phase_I					31	4103	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4075G>C	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800257	0.31869	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.32272	1.46;1.46	3.79	1.31	0.21738	Alpha-macroglobulin, receptor-binding (2);	0.349456	0.20529	U	0.090551	T	0.48909	0.1526	M	0.86178	2.8	0.25303	N	0.989268	D;D	0.65815	0.985;0.995	P;P	0.59761	0.8;0.863	T	0.38824	-0.9643	10	0.72032	D	0.01	.	6.5741	0.22555	0.0:0.5731:0.0:0.4269	.	1145;1359	P20742-2;P20742	.;PZP_HUMAN	H	1359;1145	ENSP00000261336:D1359H;ENSP00000371427:D1145H	ENSP00000261336:D1359H	D	-	1	0	PZP	9196733	0.002000	0.14202	0.729000	0.30791	0.894000	0.52154	0.010000	0.13242	0.131000	0.18576	0.563000	0.77884	GAT		0.433	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		75	205	0	0	0	1	0	75	205				
OR6N2	81442	broad.mit.edu	37	1	158747330	158747330	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:158747330T>A	ENST00000339258.1	-	1	95	c.96A>T	c.(94-96)ctA>ctT	p.L32L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTATGCCAATAGCAGCAGGA	0.493																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(94-96)ctA>ctT		olfactory receptor, family 6, subfamily N, member 2							107.0	104.0	105.0					1																	158747330		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747330T>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.96A>T	1.37:g.158747330T>A			Somatic					p.L32L	NM_001005278.1	NP_001005278.1	WXS	Illumina GAIIx	Phase_I	Q8NGY6	OR6N2_HUMAN			1	95	-	all_hematologic(112;0.0378)		32					Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.96A>T	CCDS30906.1																																																																																				0.493	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			8	933	0	0	0	1	0	8	933				
INCENP	3619	broad.mit.edu	37	11	61908398	61908398	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:61908398T>C	ENST00000394818.3	+	10	1677	c.1475T>C	c.(1474-1476)cTc>cCc	p.L492P	INCENP_ENST00000278849.4_Missense_Mutation_p.L492P	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	492					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTACGGCCCCTCCGGACCTTT	0.632																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1474-1476)cTc>cCc		inner centromere protein antigens 135/155kDa							73.0	75.0	74.0					11																	61908398		2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61908398T>C	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1475T>C	11.37:g.61908398T>C	ENSP00000378295:p.Leu492Pro		Somatic				INCENP_ENST00000278849.4_Missense_Mutation_p.L492P	p.L492P	NM_001040694.1	NP_001035784.1	WXS	Illumina GAIIx	Phase_I	Q9NQS7	INCE_HUMAN			10	1677	+			492					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.1475T>C	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546817	0.45383	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.17691	2.26;2.32	5.3	4.1	0.47936	.	0.157127	0.29884	N	0.010941	T	0.14399	0.0348	M	0.64997	1.995	0.52099	D	0.999945	B;B;B	0.32350	0.109;0.366;0.251	B;B;B	0.29077	0.068;0.098;0.045	T	0.06972	-1.0797	10	0.30854	T	0.27	.	4.1352	0.10167	0.1799:0.0935:0.0:0.7266	.	492;492;492	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	P	492	ENSP00000378295:L492P;ENSP00000278849:L492P	ENSP00000278849:L492P	L	+	2	0	INCENP	61664974	0.942000	0.31987	1.000000	0.80357	0.984000	0.73092	2.011000	0.40922	2.015000	0.59207	0.533000	0.62120	CTC		0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		10	44	0	0	0	1	0	10	44				
CCDC62	84660	broad.mit.edu	37	12	123273471	123273471	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:123273471T>A	ENST00000253079.6	+	5	1009	c.665T>A	c.(664-666)cTa>cAa	p.L222Q	CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	222					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTCAACAAACTAAAAGGTAAG	0.358																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(664-666)cTa>cAa		coiled-coil domain containing 62							82.0	79.0	80.0					12																	123273471		2203	4300	6503	SO:0001583	missense	84660					cytoplasm|nucleus		g.chr12:123273471T>A		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.665T>A	12.37:g.123273471T>A	ENSP00000253079:p.Leu222Gln		Somatic				CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q	p.L222Q	NM_201435.4	NP_958843.2	WXS	Illumina GAIIx	Phase_I	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	5	1009	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		222					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	ENST00000253079.6	37	c.665T>A	CCDS9238.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971625	0.53614	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.38722	1.12;1.12	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000094	T	0.62490	0.2432	M	0.71581	2.175	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.64980	-0.6279	10	0.56958	D	0.05	-9.4701	12.3693	0.55246	0.0:0.0:0.0:1.0	.	222;222	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	Q	222	ENSP00000253079:L222Q;ENSP00000376236:L222Q	ENSP00000253079:L222Q	L	+	2	0	CCDC62	121839424	0.927000	0.31430	0.012000	0.15200	0.685000	0.39939	4.218000	0.58554	2.179000	0.69175	0.533000	0.62120	CTA		0.358	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		4	50	0	0	0	1	0	4	50				
MASP1	5648	broad.mit.edu	37	3	186937924	186937924	+	Missense_Mutation	SNP	C	C	T	rs3774266	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:186937924C>T	ENST00000337774.5	-	16	2424	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	679	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> R (in dbSNP:rs3774266).		complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAGTATACTCCGTAGCGGTCC	0.572											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	4	0.000798722	0.0	0.0	5008	,	,		18328	0.004		0.0	False		,,,				2504	0.0					ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(2035-2037)Gga>Aga		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							147.0	129.0	135.0					3																	186937924		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186937924C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.2035G>A	3.37:g.186937924C>T	ENSP00000336792:p.Gly679Arg		Somatic	OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2011		p.G679R	NM_001879.5	NP_001870.3	WXS	Illumina GAIIx	Phase_I	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	16	2424	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		679		G -> R (in dbSNP:rs3774266).	Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.2035G>A	CCDS33907.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	26.5	4.746720	0.89663	.	.	ENSG00000127241	ENST00000337774	D	0.91180	-2.8	6.13	6.13	0.99165	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.96352	0.8810	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95876	0.8895	9	0.87932	D	0	.	18.334	0.90280	0.0:1.0:0.0:0.0	rs3774266;rs52802142;rs3774266	679	P48740	MASP1_HUMAN	R	679	ENSP00000336792:G679R	ENSP00000336792:G679R	G	-	1	0	MASP1	188420618	1.000000	0.71417	0.936000	0.37596	0.867000	0.49689	5.560000	0.67332	2.932000	0.99384	0.644000	0.83932	GGA		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		16	352	0	0	0	1	0	16	352				
IDS	3423	broad.mit.edu	37	X	148586585	148586585	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:148586585G>C	ENST00000340855.6	-	1	292	c.83C>G	c.(82-84)aCg>aGg	p.T28R	IDS_ENST00000370443.4_Missense_Mutation_p.T28R|IDS_ENST00000370441.4_Missense_Mutation_p.T28R|IDS_ENST00000427113.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000422081.2_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.T28R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	28					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GTTGGCCTGCGTTTCGGATCC	0.647																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	GRCh37	CI962295	IDS	I		c.(82-84)aCg>aGg		iduronate 2-sulfatase							99.0	74.0	82.0					X																	148586585		2202	4300	6502	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148586585G>C	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.83C>G	X.37:g.148586585G>C	ENSP00000339801:p.Thr28Arg		Somatic				IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.T28R|IDS_ENST00000428056.2_Missense_Mutation_p.T28R|IDS_ENST00000370443.4_Missense_Mutation_p.T28R|AF011889.5_ENST00000422081.1_RNA	p.T28R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	WXS	Illumina GAIIx	Phase_I	P22304	IDS_HUMAN			1	292	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		28					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.83C>G	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491886	0.26774	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.99462	-5.62;-5.61;-5.6;-5.94;-4.91	3.33	0.457	0.16661	.	0.681480	0.12849	N	0.434066	D	0.95999	0.8697	N	0.14661	0.345	0.09310	N	1	P;B;B	0.35242	0.492;0.001;0.001	B;B;B	0.31442	0.13;0.001;0.001	D	0.94466	0.7680	10	0.59425	D	0.04	.	2.6087	0.04885	0.2701:0.0:0.5022:0.2277	.	28;28;28	O60597;P22304-2;P22304	.;.;IDS_HUMAN	R	28	ENSP00000339801:T28R;ENSP00000359470:T28R;ENSP00000359472:T28R;ENSP00000390241:T28R;ENSP00000429745:T28R	ENSP00000339801:T28R	T	-	2	0	IDS	148394489	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.488000	0.06497	-0.025000	0.13918	-0.269000	0.10298	ACG		0.647	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			90	164	0	0	0	1	0	90	164				
NUDT19	390916	broad.mit.edu	37	19	33183154	33183154	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:33183154C>A	ENST00000397061.3	+	1	288	c.288C>A	c.(286-288)ttC>ttA	p.F96L	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	96	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CGGCGCCATTCAGCCGCACCG	0.726																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(286-288)ttC>ttA		nudix (nucleoside diphosphate linked moiety X)-type motif 19							17.0	20.0	19.0					19																	33183154		2021	4135	6156	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183154C>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.288C>A	19.37:g.33183154C>A	ENSP00000380251:p.Phe96Leu		Somatic					p.F96L	NM_001105570.1	NP_001099040.1	WXS	Illumina GAIIx	Phase_I	A8MXV4	NUD19_HUMAN			1	288	+	Esophageal squamous(110;0.137)		96			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000397061.3	37	c.288C>A	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	C	8.079	0.772012	0.16051	.	.	ENSG00000213965	ENST00000397061	T	0.39997	1.05	3.94	-4.76	0.03229	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.669254	0.12501	U	0.463338	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19910	-1.0291	10	0.19590	T	0.45	-34.8731	4.0995	0.10007	0.1165:0.2539:0.4612:0.1683	.	96	A8MXV4	NUD19_HUMAN	L	96	ENSP00000380251:F96L	ENSP00000380251:F96L	F	+	3	2	NUDT19	37874994	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.134000	0.15932	-0.625000	0.05604	0.313000	0.20887	TTC		0.726	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		6	16	1	0	0.217242	1	0.220346	6	16				
PRRC2C	23215	broad.mit.edu	37	1	171509126	171509126	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:171509126G>A	ENST00000338920.4	+	16	2752	c.2515G>A	c.(2515-2517)Gac>Aac	p.D839N	PRRC2C_ENST00000392078.3_Missense_Mutation_p.D841N|PRRC2C_ENST00000367742.3_Missense_Mutation_p.D841N|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D839N	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	839					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGCTGCGTTGGACCAGGAACA	0.383																																						ENST00000367742.3																			0											c.(2521-2523)Gac>Aac		proline-rich coiled-coil 2C							139.0	142.0	141.0					1																	171509126		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509126G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2515G>A	1.37:g.171509126G>A	ENSP00000343629:p.Asp839Asn		Somatic				PRRC2C_ENST00000392078.3_Missense_Mutation_p.D841N|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D839N|PRRC2C_ENST00000338920.4_Missense_Mutation_p.D839N	p.D841N			WXS	Illumina GAIIx	Phase_I	Q9Y520	PRC2C_HUMAN			16	2763	+			839					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2521G>A	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648073	0.47258	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.85	5.85	0.93711	.	0.316812	0.22461	N	0.059755	T	0.04815	0.0130	L	0.27053	0.805	0.49915	D	0.999831	P	0.41848	0.763	B	0.39840	0.311	T	0.45498	-0.9257	10	0.42905	T	0.14	.	20.2313	0.98350	0.0:0.0:1.0:0.0	.	839	Q9Y520-4	.	N	841;840;839;841;839;596;598	ENSP00000375928:D841N;ENSP00000410219:D839N;ENSP00000356716:D841N;ENSP00000343629:D839N	ENSP00000343629:D839N	D	+	1	0	PRRC2C	169775750	1.000000	0.71417	0.038000	0.18304	0.604000	0.37047	8.381000	0.90152	2.784000	0.95788	0.580000	0.79431	GAC		0.383	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		82	239	0	0	0	1	0	82	239				
SAMSN1	64092	broad.mit.edu	37	21	15872904	15872904	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr21:15872904A>T	ENST00000400566.1	-	6	795	c.714T>A	c.(712-714)agT>agA	p.S238R	SAMSN1_ENST00000285670.2_Missense_Mutation_p.S306R|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.S70R	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	238					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTGCTGTTACTCCTTCGGT	0.408																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(916-918)agT>agA		SAM domain, SH3 domain and nuclear localization signals 1							142.0	130.0	133.0					21																	15872904		1838	4081	5919	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15872904A>T	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.714T>A	21.37:g.15872904A>T	ENSP00000383411:p.Ser238Arg		Somatic				SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.S70R|SAMSN1_ENST00000400566.1_Missense_Mutation_p.S238R	p.S306R	NM_001256370.1	NP_001243299.1	WXS	Illumina GAIIx	Phase_I	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	7	1092	-			238					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.918T>A	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	A	7.851	0.724080	0.15439	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.82893	-1.66;-1.66;-1.66	5.63	1.91	0.25777	Src homology-3 domain (1);Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.125321	0.64402	N	0.000001	T	0.76407	0.3983	L	0.57536	1.79	0.37993	D	0.933979	B;B;B	0.20671	0.029;0.047;0.024	B;B;B	0.24848	0.035;0.015;0.056	T	0.66626	-0.5876	10	0.35671	T	0.21	-8.3804	6.1748	0.20437	0.6596:0.1255:0.2149:0.0	.	70;306;238	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	R	306;238;70	ENSP00000285670:S306R;ENSP00000383411:S238R;ENSP00000383409:S70R	ENSP00000285670:S306R	S	-	3	2	SAMSN1	14794775	0.995000	0.38212	0.097000	0.21041	0.006000	0.05464	1.349000	0.33998	0.081000	0.16988	-0.274000	0.10170	AGT		0.408	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			4	59	0	0	0	1	0	4	59				
ZNF275	10838	broad.mit.edu	37	X	152612702	152612702	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:152612702G>A	ENST00000421401.3	+	4	736	c.559G>A	c.(559-561)Gga>Aga	p.G187R	ZNF275_ENST00000370249.2_Missense_Mutation_p.G134R|ZNF275_ENST00000440091.1_Missense_Mutation_p.G217R|ZNF275_ENST00000370251.3_Missense_Mutation_p.G187R			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G134R(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGAGTGCGGAAAACGGTT	0.602																																						ENST00000421401.3																			1	Substitution - Missense(1)	p.G134R(1)	large_intestine(1)	endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(559-561)Gga>Aga		zinc finger protein 275							88.0	93.0	91.0					X																	152612702		2197	4287	6484	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612702G>A	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.559G>A	X.37:g.152612702G>A	ENSP00000398977:p.Gly187Arg		Somatic				ZNF275_ENST00000370251.2_Missense_Mutation_p.G187R|ZNF275_ENST00000440091.1_Missense_Mutation_p.G217R|ZNF275_ENST00000370249.2_Missense_Mutation_p.G134R	p.G187R	NM_001080485.3	NP_001073954.3	WXS	Illumina GAIIx	Phase_I	A6NFS0	A6NFS0_HUMAN			4	736	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		187					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.559G>A		.	.	.	.	.	.	.	.	.	.	G	16.73	3.204493	0.58234	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.35789	1.29;1.29;4.31;1.29	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000448	T	0.59945	0.2231	M	0.73962	2.25	0.36738	D	0.882072	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69851	-0.5033	10	0.72032	D	0.01	-53.0828	14.4763	0.67548	0.0:0.0:1.0:0.0	.	187;187	Q9NSD4;A6NFS0	ZN275_HUMAN;.	R	187;187;217;134	ENSP00000359271:G187R;ENSP00000398977:G187R;ENSP00000411097:G217R;ENSP00000359269:G134R	ENSP00000359269:G134R	G	+	1	0	ZNF275	152265896	1.000000	0.71417	0.913000	0.36048	0.580000	0.36256	5.493000	0.66899	2.386000	0.81285	0.513000	0.50165	GGA		0.602	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		4	337	0	0	0	1	0	4	337				
OR4C3	256144	broad.mit.edu	37	11	48346532	48346532	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:48346532A>T	ENST00000319856.4	+	1	61	c.40A>T	c.(40-42)Ata>Tta	p.I14L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTTGTCTTTATAGGCAATAC	0.383																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(40-42)Ata>Tta		olfactory receptor, family 4, subfamily C, member 3							117.0	121.0	119.0					11																	48346532		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346532A>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.40A>T	11.37:g.48346532A>T	ENSP00000321419:p.Ile14Leu		Somatic					p.I14L	NM_001004702.1	NP_001004702.1	WXS	Illumina GAIIx	Phase_I	Q8NH37	OR4C3_HUMAN			1	61	+			167					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.40A>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.322273	0.60634	.	.	ENSG00000176547	ENST00000319856	T	0.07021	3.23	5.34	-8.53	0.00916	.	0.955375	0.08531	N	0.931981	T	0.05364	0.0142	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40327	-0.9569	7	0.54805	T	0.06	.	1.1821	0.01847	0.1422:0.2065:0.2472:0.4042	.	.	.	.	L	14	ENSP00000321419:I14L	ENSP00000321419:I14L	I	+	1	0	OR4C3	48303108	0.000000	0.05858	0.003000	0.11579	0.481000	0.33189	-0.268000	0.08607	-0.945000	0.03681	-0.404000	0.06349	ATA		0.383	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		5	280	0	0	0	1	0	5	280				
PHKB	5257	broad.mit.edu	37	16	47497874	47497874	+	Intron	SNP	G	G	T	rs145777693	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr16:47497874G>T	ENST00000323584.5	+	1	100				PHKB_ENST00000566044.1_Missense_Mutation_p.V9F|ITFG1_ENST00000320640.6_5'Flank|PHKB_ENST00000455779.1_Missense_Mutation_p.V9F|PHKB_ENST00000567402.1_Intron|PHKB_ENST00000299167.8_Intron|ITFG1_ENST00000544001.2_5'Flank	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGATGCAGTCGTCTCTCCGTC	0.403																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(25-27)Gtc>Ttc		phosphorylase kinase, beta							147.0	141.0	143.0					16																	47497874		1863	4099	5962	SO:0001627	intron_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47497874G>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.76+2537G>T	16.37:g.47497874G>T			Somatic				PHKB_ENST00000567402.1_Intron|PHKB_ENST00000566044.1_Missense_Mutation_p.V9F|PHKB_ENST00000299167.8_Intron|PHKB_ENST00000323584.5_Intron	p.V9F			WXS	Illumina GAIIx	Phase_I	Q93100	KPBB_HUMAN			2	210	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	0			Calmodulin-binding (Potential).		Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.25G>T	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118829	0.20877	.	.	ENSG00000102893	ENST00000299167;ENST00000455779	D	0.90955	-2.76	5.65	0.817	0.18773	.	.	.	.	.	T	0.78622	0.4312	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.65734	-0.6096	9	0.37606	T	0.19	.	8.3052	0.32038	0.26:0.0:0.6294:0.1106	.	9;9	B4DQ16;Q93100-4	.;.	F	9	ENSP00000414345:V9F	ENSP00000299167:V9F	V	+	1	0	PHKB	46055375	0.165000	0.22948	0.719000	0.30619	0.852000	0.48524	0.172000	0.16704	0.300000	0.22699	0.585000	0.79938	GTC		0.403	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			9	95	1	0	9.05144e-12	1	9.59183e-12	9	95				
MARCH8	220972	broad.mit.edu	37	10	46028588	46028588	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:46028588A>T	ENST00000319836.3	-	2	821	c.72T>A	c.(70-72)agT>agA	p.S24R	MARCH8_ENST00000395769.2_Missense_Mutation_p.S24R|MARCH8_ENST00000395771.3_Missense_Mutation_p.S24R|MARCH8_ENST00000453424.2_Missense_Mutation_p.S24R	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	24					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CTTTGGTCTTACTTCTGTAGA	0.398																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(70-72)agT>agA		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							119.0	110.0	113.0					10																	46028588		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:46028588A>T	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.72T>A	10.37:g.46028588A>T	ENSP00000317087:p.Ser24Arg		Somatic				MARCH8_ENST00000395771.3_Missense_Mutation_p.S24R|MARCH8_ENST00000319836.3_Missense_Mutation_p.S24R|MARCH8_ENST00000395769.2_Missense_Mutation_p.S24R	p.S24R			WXS	Illumina GAIIx	Phase_I	Q5T0T0	MARH8_HUMAN			2	333	-			24					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.72T>A	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.344199	0.41498	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769;ENST00000453980	T;T;T	0.12147	2.71;2.71;2.71	5.04	3.77	0.43336	.	.	.	.	.	T	0.06188	0.0160	N	0.08118	0	0.33600	D	0.602253	B	0.06786	0.001	B	0.04013	0.001	T	0.25328	-1.0135	9	0.24483	T	0.36	.	5.6187	0.17446	0.8231:0.0:0.1769:0.0	.	24	Q5T0T0	MARH8_HUMAN	R	24	ENSP00000379118:S24R;ENSP00000317087:S24R;ENSP00000379116:S24R	ENSP00000317087:S24R	S	-	3	2	MARCH8	45348594	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.708000	0.25719	0.603000	0.29913	0.460000	0.39030	AGT		0.398	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		5	186	0	0	0	1	0	5	186				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	40	0	0	0	1	0	4	40				
FRMPD1	22844	broad.mit.edu	37	9	37708465	37708465	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:37708465A>G	ENST00000539465.1	+	4	922	c.329A>G	c.(328-330)gAc>gGc	p.D110G	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D110G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	110	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTGCTGAAGACCTTTCCTGG	0.453																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(328-330)gAc>gGc		FERM and PDZ domain containing 1							127.0	116.0	119.0					9																	37708465		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37708465A>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.329A>G	9.37:g.37708465A>G	ENSP00000444411:p.Asp110Gly		Somatic				FRMPD1_ENST00000377765.3_Missense_Mutation_p.D110G|RP11-613M10.9_ENST00000540557.1_Intron	p.D110G			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	4	922	+			110			PDZ.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.329A>G	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646847	0.67358	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.31247	1.5;1.5	5.91	3.51	0.40186	PDZ/DHR/GLGF (4);	0.315671	0.37715	N	0.001980	T	0.29620	0.0739	L	0.31120	0.905	0.80722	D	1	P	0.45715	0.865	P	0.51974	0.686	T	0.04140	-1.0974	10	0.52906	T	0.07	-6.9476	5.6494	0.17608	0.7393:0.1698:0.0909:0.0	.	110	Q5SYB0	FRPD1_HUMAN	G	110	ENSP00000366995:D110G;ENSP00000444411:D110G	ENSP00000366995:D110G	D	+	2	0	FRMPD1	37698465	1.000000	0.71417	0.998000	0.56505	0.706000	0.40770	3.176000	0.50863	0.465000	0.27167	-0.321000	0.08615	GAC		0.453	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		43	114	0	0	0	1	0	43	114				
XIRP2	129446	broad.mit.edu	37	2	168106925	168106925	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:168106925T>A	ENST00000409195.1	+	9	9112	c.9023T>A	c.(9022-9024)gTa>gAa	p.V3008E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2833					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGAAAAAGTAAAAGAAGAA	0.333																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9022-9024)gTa>gAa		xin actin-binding repeat containing 2							65.0	65.0	65.0					2																	168106925		1833	4069	5902	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106925T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9023T>A	2.37:g.168106925T>A	ENSP00000386840:p.Val3008Glu		Somatic				XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.V3008E	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	9112	+			2833					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9023T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281317	0.59758	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02787	4.16;4.16;4.16	5.88	5.88	0.94601	.	0.362772	0.30940	N	0.008572	T	0.04861	0.0131	L	0.44542	1.39	0.35161	D	0.770687	P;P;P	0.49559	0.877;0.925;0.925	B;P;P	0.44990	0.276;0.466;0.466	T	0.53767	-0.8392	10	0.27082	T	0.32	-1.0103	15.2773	0.73750	0.0:0.0:0.0:1.0	.	2833;2833;2786	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	3008;3008;2786;422	ENSP00000386840:V3008E;ENSP00000295237:V3008E;ENSP00000387255:V2786E	ENSP00000295237:V3008E	V	+	2	0	XIRP2	167815171	0.973000	0.33851	0.981000	0.43875	0.919000	0.55068	4.106000	0.57804	2.253000	0.74438	0.455000	0.32223	GTA		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	137	0	0	0	1	0	5	137				
AAAS	8086	broad.mit.edu	37	12	53715254	53715254	+	5'UTR	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:53715254C>T	ENST00000209873.4	-	0	161				AAAS_ENST00000549983.1_Splice_Site|AAAS_ENST00000394384.3_5'UTR|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GCACATCTTGCCGGTTCGCAG	0.607											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000549983.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.e1+1		achalasia, adrenocortical insufficiency, alacrimia							111.0	112.0	112.0					12																	53715254		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715254C>T	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.-5G>A	12.37:g.53715254C>T			Somatic	OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	AAAS_ENST00000209873.4_5'UTR|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_5'UTR				WXS	Illumina GAIIx	Phase_I	Q9NRG9	AAAS_HUMAN			1	146	-								Q5JB47|Q9NWI6|Q9UG19	Splice_Site	SNP	ENST00000209873.4	37		CCDS8856.1																																																																																				0.607	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			5	292	0	0	0	1	0	5	292				
WSCD1	23302	broad.mit.edu	37	17	6023803	6023803	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:6023803T>A	ENST00000574946.1	+	9	1940	c.1550T>A	c.(1549-1551)cTg>cAg	p.L517Q	WSCD1_ENST00000574232.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.L401Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.L517Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	517						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAGGAGCGGCTGCTCTGCGTG	0.652																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1549-1551)cTg>cAg		WSC domain containing 1							73.0	70.0	71.0					17																	6023803		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:6023803T>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1550T>A	17.37:g.6023803T>A	ENSP00000460825:p.Leu517Gln		Somatic				WSCD1_ENST00000574232.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.L517Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.L401Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.L517Q	p.L517Q			WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			9	1940	+			517					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.1550T>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.765954	0.90020	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85556	-2.0;-2.0	5.54	5.54	0.83059	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93668	0.6987	10	0.87932	D	0	-20.955	13.6284	0.62181	0.0:0.0:0.0:1.0	.	517	Q658N2	WSCD1_HUMAN	Q	517	ENSP00000323087:L517Q;ENSP00000446032:L517Q	ENSP00000323087:L517Q	L	+	2	0	WSCD1	5964527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.668000	0.83897	2.107000	0.64212	0.533000	0.62120	CTG		0.652	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		33	70	0	0	0	1	0	33	70				
TMEM61	199964	broad.mit.edu	37	1	55457606	55457606	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:55457606G>T	ENST00000371268.3	+	3	737	c.463G>T	c.(463-465)Gcc>Tcc	p.A155S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	155						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TACGGAGGAAGCCCTGGAGCC	0.627																																						ENST00000371268.3																			0				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(463-465)Gcc>Tcc		transmembrane protein 61							99.0	86.0	90.0					1																	55457606		2203	4300	6503	SO:0001583	missense	199964					integral to membrane		g.chr1:55457606G>T	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.463G>T	1.37:g.55457606G>T	ENSP00000360315:p.Ala155Ser		Somatic				RP11-12C17.2_ENST00000436960.1_RNA	p.A155S	NM_182532.1	NP_872338.1	WXS	Illumina GAIIx	Phase_I	Q8N0U2	TMM61_HUMAN			3	737	+			155						Missense_Mutation	SNP	ENST00000371268.3	37	c.463G>T	CCDS601.1	.	.	.	.	.	.	.	.	.	.	G	7.393	0.631187	0.14322	.	.	ENSG00000143001	ENST00000371268	T	0.44881	0.91	3.64	1.77	0.24775	.	1.086220	0.07182	N	0.854159	T	0.25344	0.0616	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24799	-1.0150	10	0.10902	T	0.67	-3.2661	7.453	0.27250	0.2128:0.0:0.7872:0.0	.	155	Q8N0U2	TMM61_HUMAN	S	155	ENSP00000360315:A155S	ENSP00000360315:A155S	A	+	1	0	TMEM61	55230194	0.918000	0.31147	0.004000	0.12327	0.012000	0.07955	1.484000	0.35508	0.532000	0.28657	0.462000	0.41574	GCC		0.627	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		35	59	1	0	8.16277e-20	1	8.91626e-20	35	59				
IGSF11	152404	broad.mit.edu	37	3	118623533	118623533	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:118623533A>T	ENST00000393775.2	-	6	1121	c.816T>A	c.(814-816)aaT>aaA	p.N272K	IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K|IGSF11_ENST00000354673.2_Missense_Mutation_p.N271K|IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	272					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCCTCTTTATTTTTGCTTC	0.343																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(811-813)aaT>aaA		immunoglobulin superfamily, member 11							94.0	108.0	104.0					3																	118623533		2203	4299	6502	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623533A>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.816T>A	3.37:g.118623533A>T	ENSP00000377370:p.Asn272Lys		Somatic				IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K|IGSF11_ENST00000393775.2_Missense_Mutation_p.N272K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K	p.N271K	NM_152538.2	NP_689751.2	WXS	Illumina GAIIx	Phase_I	Q5DX21	IGS11_HUMAN			8	1193	-			272					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.813T>A	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	A	5.358	0.251359	0.10130	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.83506	-0.88;-1.11;-1.73;-0.88;-1.66;-1.68	5.28	-2.94	0.05581	.	0.140928	0.64402	D	0.000006	T	0.59729	0.2215	N	0.12182	0.205	0.46774	D	0.999191	B;P;B;B;B	0.35575	0.22;0.51;0.29;0.376;0.376	B;B;B;B;B	0.32864	0.054;0.154;0.154;0.073;0.073	T	0.58825	-0.7568	10	0.02654	T	1	.	13.8086	0.63248	0.3778:0.0:0.6222:0.0	.	244;247;271;248;272	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	K	271;272;248;271;247;244	ENSP00000406092:N271K;ENSP00000377370:N272K;ENSP00000420486:N248K;ENSP00000346700:N271K;ENSP00000401240:N247K;ENSP00000417413:N244K	ENSP00000346700:N271K	N	-	3	2	IGSF11	120106223	1.000000	0.71417	0.966000	0.40874	0.995000	0.86356	2.350000	0.44063	-0.680000	0.05211	-0.250000	0.11733	AAT		0.343	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			4	122	0	0	0	1	0	4	122				
MGA	23269	broad.mit.edu	37	15	42042411	42042411	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:42042411T>A	ENST00000570161.1	+	16	6606	c.6606T>A	c.(6604-6606)atT>atA	p.I2202I	MGA_ENST00000566586.1_Silent_p.I1993I|MGA_ENST00000545763.1_Silent_p.I1993I|MGA_ENST00000219905.7_Silent_p.I2202I|MGA_ENST00000389936.4_Silent_p.I2163I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCAGTTAATTAAAGAAACAA	0.413																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6604-6606)atT>atA		MGA, MAX dimerization protein							136.0	133.0	134.0					15																	42042411		1864	4102	5966	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042411T>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6606T>A	15.37:g.42042411T>A			Somatic				MGA_ENST00000545763.1_Silent_p.I1993I|MGA_ENST00000566586.1_Silent_p.I1993I|MGA_ENST00000389936.4_Silent_p.I2163I|MGA_ENST00000570161.1_Silent_p.I2202I	p.I2202I	NM_001164273.1	NP_001157745.1	WXS	Illumina GAIIx	Phase_I	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6787	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2163					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.6606T>A	CCDS55959.1																																																																																				0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	172	0	0	0	1	0	5	172				
FGFR4	2264	broad.mit.edu	37	5	176524604	176524604	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:176524604A>C	ENST00000292408.4	+	18	2581	c.2336A>C	c.(2335-2337)gAt>gCt	p.D779A	FGFR4_ENST00000393637.1_Missense_Mutation_p.D739A|FGFR4_ENST00000292410.3_Missense_Mutation_p.D739A|FGFR4_ENST00000502906.1_Missense_Mutation_p.D779A|FGFR4_ENST00000393648.2_Missense_Mutation_p.D711A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	779					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TCCTCCAGCGATTCTGTCTTC	0.632										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(2335-2337)gAt>gCt		fibroblast growth factor receptor 4	Palifermin(DB00039)						115.0	86.0	96.0					5																	176524604		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176524604A>C	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2336A>C	5.37:g.176524604A>C	ENSP00000292408:p.Asp779Ala	TSP Lung(9;0.080)	Somatic				FGFR4_ENST00000393648.2_Missense_Mutation_p.D711A|FGFR4_ENST00000502906.1_Missense_Mutation_p.D779A|FGFR4_ENST00000393637.1_Missense_Mutation_p.D739A|FGFR4_ENST00000292410.3_Missense_Mutation_p.D739A	p.D779A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	WXS	Illumina GAIIx	Phase_I	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2581	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	779					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.2336A>C	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791637	0.50102	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	M	0.64997	1.995	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	D	0.91429	0.5164	10	0.87932	D	0	.	13.1893	0.59700	1.0:0.0:0.0:0.0	.	711;739;779	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	A	779;711;779;739;739;1007	ENSP00000292408:D779A;ENSP00000377259:D711A;ENSP00000424960:D779A;ENSP00000292410:D739A;ENSP00000377254:D739A	ENSP00000292408:D779A	D	+	2	0	FGFR4	176457210	1.000000	0.71417	0.947000	0.38551	0.307000	0.27823	9.097000	0.94193	1.952000	0.56665	0.379000	0.24179	GAT		0.632	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			66	77	0	0	0	1	0	66	77				
PHLDB2	90102	broad.mit.edu	37	3	111603282	111603282	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:111603282G>A	ENST00000431670.2	+	2	769	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PHLDB2_ENST00000478922.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G147R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G120R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G120R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	120						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCCCTCAGTGGATATCCACT	0.448																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(358-360)Gga>Aga		pleckstrin homology-like domain, family B, member 2							208.0	225.0	219.0					3																	111603282		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603282G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.358G>A	3.37:g.111603282G>A	ENSP00000405405:p.Gly120Arg		Somatic				PHLDB2_ENST00000393925.3_Missense_Mutation_p.G120R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G147R	p.G120R	NM_001134438.1	NP_001127910.1	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			2	769	+			120					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.358G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693273	0.48202	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.34667	1.35;1.39;1.36;1.37;1.39;1.36	5.66	4.77	0.60923	.	0.270585	0.37437	N	0.002084	T	0.51873	0.1700	L	0.47716	1.5	0.09310	N	0.999999	D;D;D;D;D	0.89917	0.961;0.959;1.0;0.96;0.992	P;P;D;P;P	0.75484	0.64;0.79;0.986;0.59;0.9	T	0.45600	-0.9250	10	0.54805	T	0.06	.	13.484	0.61355	0.0:0.0:0.843:0.157	.	120;120;120;120;147	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	R	147;147;120;120;120;120;120;120;120	ENSP00000377500:G147R;ENSP00000405405:G120R;ENSP00000405292:G120R;ENSP00000418296:G120R;ENSP00000377502:G120R;ENSP00000418319:G120R	ENSP00000352764:G147R	G	+	1	0	PHLDB2	113085972	0.678000	0.27586	0.026000	0.17262	0.774000	0.43823	5.904000	0.69886	1.501000	0.48654	0.655000	0.94253	GGA		0.448	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		20	771	0	0	0	1	0	20	771				
NHS	4810	broad.mit.edu	37	X	17742451	17742451	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:17742451T>C	ENST00000380060.3	+	5	1416	c.1078T>C	c.(1078-1080)Tgc>Cgc	p.C360R	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.C204R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	381					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAGTATACGCTGCTCTCTGGT	0.433																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1078-1080)Tgc>Cgc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							136.0	115.0	122.0					X																	17742451		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17742451T>C		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1078T>C	X.37:g.17742451T>C	ENSP00000369400:p.Cys360Arg		Somatic				NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.C204R	p.C360R	NM_198270.2	NP_938011.1	WXS	Illumina GAIIx	Phase_I	Q6T4R5	NHS_HUMAN			5	1416	+	Hepatocellular(33;0.183)		360					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1078T>C	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644836	0.47258	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.39406	1.08;1.18	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.48390	0.1497	L	0.31664	0.95	0.80722	D	1	P;D;D;D	0.89917	0.927;1.0;1.0;1.0	P;D;D;D	0.91635	0.82;0.999;0.999;0.998	T	0.35773	-0.9775	10	0.07030	T	0.85	-16.2173	14.8956	0.70642	0.0:0.0:0.0:1.0	.	381;202;204;360	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	R	360;204;202	ENSP00000369400:C360R;ENSP00000381170:C204R	ENSP00000369397:C202R	C	+	1	0	NHS	17652372	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.180000	0.71981	1.968000	0.57251	0.486000	0.48141	TGC		0.433	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		29	456	0	0	0	1	0	29	456				
OR51E1	143503	broad.mit.edu	37	11	4674702	4674702	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:4674702T>G	ENST00000396952.5	+	2	1596	c.946T>G	c.(946-948)Tca>Gca	p.S316A	OR51E1_ENST00000530215.1_3'UTR	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACACACGCTTCAGAGCCCTA	0.428																																						ENST00000396952.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(946-948)Tca>Gca		olfactory receptor, family 51, subfamily E, member 1							69.0	65.0	66.0					11																	4674702		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674702T>G	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.946T>G	11.37:g.4674702T>G	ENSP00000380155:p.Ser316Ala		Somatic				OR51E1_ENST00000530215.1_3'UTR	p.S316A	NM_152430.3	NP_689643.2	WXS	Illumina GAIIx	Phase_I	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1596	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	315					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.946T>G	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	T	0.225	-1.025671	0.02045	.	.	ENSG00000180785	ENST00000396952	T	0.08102	3.13	4.77	3.61	0.41365	.	0.161380	0.29431	N	0.012165	T	0.04003	0.0112	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.41215	-0.9521	10	0.27082	T	0.32	.	7.4792	0.27395	0.3487:0.0:0.0:0.6513	.	315	Q8TCB6	O51E1_HUMAN	A	316	ENSP00000380155:S316A	ENSP00000380155:S316A	S	+	1	0	OR51E1	4631278	0.007000	0.16637	0.012000	0.15200	0.007000	0.05969	0.121000	0.15667	0.926000	0.37118	0.533000	0.62120	TCA		0.428	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		215	397	0	0	0	1	0	215	397				
TOP3A	7156	broad.mit.edu	37	17	18188466	18188466	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:18188466T>A	ENST00000321105.5	-	15	2081	c.1867A>T	c.(1867-1869)Aaa>Taa	p.K623*	TOP3A_ENST00000542570.1_Nonsense_Mutation_p.K528*|TOP3A_ENST00000540524.1_Nonsense_Mutation_p.K153*	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	623					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTCTTTGCTTTAGCCACCGCT	0.458																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(1867-1869)Aaa>Taa		topoisomerase (DNA) III alpha							183.0	183.0	183.0					17																	18188466		2203	4300	6503	SO:0001587	stop_gained	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18188466T>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1867A>T	17.37:g.18188466T>A	ENSP00000321636:p.Lys623*		Somatic				TOP3A_ENST00000540524.1_Nonsense_Mutation_p.K153*|TOP3A_ENST00000542570.1_Nonsense_Mutation_p.K528*	p.K623*	NM_004618.3	NP_004609.1	WXS	Illumina GAIIx	Phase_I	Q13472	TOP3A_HUMAN			15	2081	-			623					A8KA61|B4DK80|D3DXC7|Q13473	Nonsense_Mutation	SNP	ENST00000321105.5	37	c.1867A>T	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	T	36	5.748643	0.96882	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	.	.	.	5.54	4.39	0.52855	.	0.123113	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5595	13.8713	0.63622	0.0:0.0:0.1355:0.8645	.	.	.	.	X	623;153;528	.	ENSP00000321636:K623X	K	-	1	0	TOP3A	18129191	1.000000	0.71417	0.863000	0.33907	0.975000	0.68041	4.998000	0.63927	2.107000	0.64212	0.491000	0.48974	AAA		0.458	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			64	101	0	0	0	1	0	64	101				
PSORS1C1	170679	broad.mit.edu	37	6	31084879	31084879	+	Intron	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:31084879C>G	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Silent_p.G171G	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CAGAGCCATTCCCTACTTGGA	0.547																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(511-513)ggG>ggC		corneodesmosin							57.0	61.0	60.0					6																	31084879		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084879C>G	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2211C>G	6.37:g.31084879C>G			Somatic				PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	p.G171G	NM_001264.4	NP_001255.3	WXS	Illumina GAIIx	Phase_I	Q15517	CDSN_HUMAN			2	539	-			171			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.513G>C	CCDS34390.1																																																																																				0.547	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		33	67	0	0	0	1	0	33	67				
DCAKD	79877	broad.mit.edu	37	17	43112204	43112204	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:43112204A>G	ENST00000452796.2	-	1	305	c.50T>C	c.(49-51)gTg>gCg	p.V17A	DCAKD_ENST00000342350.5_Missense_Mutation_p.V17A|DCAKD_ENST00000310604.4_Missense_Mutation_p.V17A|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.V17A			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	17	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CACCTGGATCACTGAGCTCTT	0.617																																						ENST00000452796.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(49-51)gTg>gCg		dephospho-CoA kinase domain containing							84.0	67.0	73.0					17																	43112204		2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43112204A>G	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.50T>C	17.37:g.43112204A>G	ENSP00000413483:p.Val17Ala		Somatic				DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.V17A|DCAKD_ENST00000310604.4_Missense_Mutation_p.V17A|DCAKD_ENST00000342350.5_Missense_Mutation_p.V17A	p.V17A			WXS	Illumina GAIIx	Phase_I	Q8WVC6	DCAKD_HUMAN			1	305	-		Prostate(33;0.155)	17			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.50T>C	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.026011	0.93518	.	.	ENSG00000172992	ENST00000342350;ENST00000452796;ENST00000310604	T;T;T	0.52295	0.79;0.79;0.67	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.78285	2.405	0.80722	D	1	D;P	0.55385	0.971;0.937	P;P	0.57548	0.7;0.823	T	0.67872	-0.5558	10	0.51188	T	0.08	0.5415	14.1135	0.65137	1.0:0.0:0.0:0.0	.	17;17	Q8WVC6-2;Q8WVC6	.;DCAKD_HUMAN	A	17	ENSP00000341504:V17A;ENSP00000413483:V17A;ENSP00000308515:V17A	ENSP00000308515:V17A	V	-	2	0	DCAKD	40467730	1.000000	0.71417	0.767000	0.31495	0.994000	0.84299	8.762000	0.91711	2.070000	0.61991	0.459000	0.35465	GTG		0.617	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		16	93	0	0	0	1	0	16	93				
PFKP	5214	broad.mit.edu	37	10	3151561	3151561	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:3151561A>G	ENST00000381125.4	+	10	1054	c.978A>G	c.(976-978)ggA>ggG	p.G326G	PFKP_ENST00000381075.2_Silent_p.G318G	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	326	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCCGCATGGGAGTGGAGGCAG	0.637																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(952-954)ggA>ggG		phosphofructokinase, platelet							62.0	50.0	54.0					10																	3151561		2203	4299	6502	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3151561A>G	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.978A>G	10.37:g.3151561A>G			Somatic				PFKP_ENST00000381125.4_Silent_p.G326G	p.G318G	NM_001242339.1	NP_001229268.1	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	12	1178	+			326					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.954A>G	CCDS7059.1																																																																																				0.637	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		14	13	0	0	0	1	0	14	13				
VPS41	27072	broad.mit.edu	37	7	38807138	38807138	+	Splice_Site	SNP	G	G	A	rs139485137	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:38807138G>A	ENST00000310301.4	-	15	1300	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	VPS41_ENST00000395969.2_Splice_Site_p.R391C	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	416					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATCATTACCGTGCTGCTATG	0.318													G|||	6	0.00119808	0.0	0.0	5008	,	,		13683	0.0		0.006	False		,,,				2504	0.0					ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.e15+1		vacuolar protein sorting 41 homolog (S. cerevisiae)		G	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	88.0	83.0	85.0		1246,1171	4.8	1.0	7	dbSNP_134	85	35,8565	23.4+/-69.3	0,35,4265	yes	missense-near-splice,missense-near-splice	VPS41	NM_014396.3,NM_080631.3	180,180	0,39,6464	AA,AG,GG		0.407,0.0908,0.2999	probably-damaging,probably-damaging	416/855,391/830	38807138	39,12967	2203	4300	6503	SO:0001630	splice_region_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38807138G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1247+1C>T	7.37:g.38807138G>A			Somatic				VPS41_ENST00000395969.2_Splice_Site_p.R391_splice	p.R416_splice	NM_014396.3	NP_055211.2	WXS	Illumina GAIIx	Phase_I	P49754	VPS41_HUMAN			15	1300	-			416					E9PF36|Q86TP8|Q99851|Q99852	Splice_Site	SNP	ENST00000310301.4	37	c.1247_splice	CCDS5457.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	17.08	3.297691	0.60086	9.08E-4	0.00407	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.18960	2.18;2.18	5.64	4.75	0.60458	.	0.046740	0.85682	D	0.000000	T	0.30665	0.0772	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.59221	0.854;0.854;0.854	T	0.12708	-1.0537	10	0.59425	D	0.04	-13.3768	13.971	0.64240	0.0:0.0:0.6125:0.3875	.	416;391;416	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	C	416;391	ENSP00000309457:R416C;ENSP00000379297:R391C	ENSP00000309457:R416C	R	-	1	0	VPS41	38773663	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.242000	0.43106	1.359000	0.45940	0.655000	0.94253	CGC		0.318	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Missense_Mutation	24	125	0	0	0	1	0	24	125				
COL15A1	1306	broad.mit.edu	37	9	101765861	101765861	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:101765861G>A	ENST00000375001.3	+	8	1615	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	398	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGAGGAAGGGGTCACTCCAGT	0.607																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1192-1194)Gtc>Atc		collagen, type XV, alpha 1							51.0	54.0	53.0					9																	101765861		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101765861G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1192G>A	9.37:g.101765861G>A	ENSP00000364140:p.Val398Ile		Somatic					p.V398I	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			8	1615	+		Acute lymphoblastic leukemia(62;0.0562)	398			4 X tandem repeats.|Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1192G>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369280	0.24771	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89746	-2.56	3.77	-1.69	0.08186	.	1.815940	0.03549	N	0.225118	T	0.79695	0.4490	L	0.32530	0.975	0.09310	N	1	B	0.20887	0.049	B	0.15052	0.012	T	0.59974	-0.7353	10	0.23302	T	0.38	0.0033	1.2009	0.01884	0.206:0.3288:0.2974:0.1679	.	398	P39059	COFA1_HUMAN	I	398;368	ENSP00000364140:V398I	ENSP00000364140:V398I	V	+	1	0	COL15A1	100805682	0.000000	0.05858	0.000000	0.03702	0.570000	0.35934	-0.477000	0.06583	-0.348000	0.08286	0.561000	0.74099	GTC		0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		35	50	0	0	0	1	0	35	50				
SUPT7L	9913	broad.mit.edu	37	2	27878230	27878230	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:27878230A>T	ENST00000337768.5	-	5	1552		c.e5+1		SUPT7L_ENST00000404798.2_Splice_Site|SUPT7L_ENST00000406540.1_Splice_Site|SUPT7L_ENST00000464789.2_Splice_Site|SUPT7L_ENST00000405491.1_Splice_Site	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TATTTGTCTTACTTGAAGCCT	0.453																																						ENST00000337768.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16						c.e5+1		suppressor of Ty 7 (S. cerevisiae)-like							74.0	74.0	74.0					2																	27878230		1901	4126	6027	SO:0001630	splice_region_variant	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27878230A>T	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.982+1T>A	2.37:g.27878230A>T			Somatic				SUPT7L_ENST00000405491.1_Splice_Site|SUPT7L_ENST00000404798.2_Splice_Site|SUPT7L_ENST00000406540.1_Splice_Site|SUPT7L_ENST00000464789.2_Splice_Site		NM_014860.1	NP_055675.1	WXS	Illumina GAIIx	Phase_I	O94864	ST65G_HUMAN			5	1552	-	Acute lymphoblastic leukemia(172;0.155)							B4E3W3|Q6IB21|Q9H2T6	Splice_Site	SNP	ENST00000337768.5	37		CCDS42667.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774474	0.90108	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUPT7L	27731734	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.496000	0.90485	2.315000	0.78130	0.533000	0.62120	.		0.453	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860	Intron	6	197	0	0	0	1	0	6	197				
STAG3	10734	broad.mit.edu	37	7	99801730	99801730	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:99801730G>A	ENST00000426455.1	+	26	3194	c.2787G>A	c.(2785-2787)ctG>ctA	p.L929L	STAG3_ENST00000394018.2_Silent_p.L871L|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Silent_p.L929L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	929					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCCTGCTGCTGAGCCTCA	0.498																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2785-2787)ctG>ctA		stromal antigen 3							140.0	112.0	122.0					7																	99801730		2203	4300	6503	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99801730G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2787G>A	7.37:g.99801730G>A			Somatic				STAG3_ENST00000317296.5_Silent_p.L929L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Silent_p.L871L	p.L929L			WXS	Illumina GAIIx	Phase_I	Q9UJ98	STAG3_HUMAN			26	3194	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		929					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.2787G>A	CCDS34703.1																																																																																				0.498	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		91	225	0	0	0	1	0	91	225				
APOB	338	broad.mit.edu	37	2	21228862	21228862	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:21228862A>T	ENST00000233242.1	-	26	11005	c.10878T>A	c.(10876-10878)acT>acA	p.T3626T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3626					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGGTTCTTAGTGTTAGCAT	0.488																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10876-10878)acT>acA		apolipoprotein B	Atorvastatin(DB01076)						60.0	57.0	58.0					2																	21228862		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228862A>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10878T>A	2.37:g.21228862A>T			Somatic					p.T3626T	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	11005	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3626					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.10878T>A	CCDS1703.1																																																																																				0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			6	137	0	0	0	1	0	6	137				
KALRN	8997	broad.mit.edu	37	3	124211627	124211627	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:124211627T>G	ENST00000240874.3	+	32	4881	c.4724T>G	c.(4723-4725)aTt>aGt	p.I1575S	KALRN_ENST00000460856.1_Missense_Mutation_p.I1566S|KALRN_ENST00000360013.3_Missense_Mutation_p.I1575S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1575	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCAAGAACATTCGAGAAGTG	0.463																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4723-4725)aTt>aGt		kalirin, RhoGEF kinase							119.0	123.0	122.0					3																	124211627		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124211627T>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4724T>G	3.37:g.124211627T>G	ENSP00000240874:p.Ile1575Ser		Somatic				KALRN_ENST00000460856.1_Missense_Mutation_p.I1566S|KALRN_ENST00000240874.3_Missense_Mutation_p.I1575S	p.I1575S	NM_001024660.3	NP_001019831.2	WXS	Illumina GAIIx	Phase_I	O60229	KALRN_HUMAN			32	4851	+			1575			PH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4724T>G	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.435561|4.435561	0.83885|0.83885	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.19806	.|2.12;2.12;2.12	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48822|0.48822	0.1521|0.1521	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.989;1.0	.|D;D;D	.|0.91635	.|0.999;0.992;0.999	T|T	0.52961|0.52961	-0.8505|-0.8505	5|10	.|0.87932	.|D	.|0	.|.	15.5807|15.5807	0.76432|0.76432	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1566;1575;1575	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	V|S	1544|1566;1575;1575	.|ENSP00000418611:I1566S;ENSP00000240874:I1575S;ENSP00000353109:I1575S	.|ENSP00000240874:I1575S	F|I	+|+	1|2	0|0	KALRN|KALRN	125694317|125694317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.863000|7.863000	0.87023|0.87023	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.463	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		58	111	0	0	0	1	0	58	111				
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		F-box protein 7							64.0	65.0	64.0					22																	32879882		2203	4300	6503	SO:0001630	splice_region_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32879882A>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.418-1A>T	22.37:g.32879882A>T			Somatic				FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site		NM_012179.3	NP_036311.3	WXS	Illumina GAIIx	Phase_I	Q9Y3I1	FBX7_HUMAN			3	744	+								B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Splice_Site	SNP	ENST00000266087.7	37		CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854895	0.71719	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO7	31209882	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	6.046000	0.71029	2.174000	0.68829	0.528000	0.53228	.		0.353	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		Intron	5	87	0	0	0	1	0	5	87				
EPCAM	4072	broad.mit.edu	37	2	47600621	47600621	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:47600621C>T	ENST00000263735.4	+	2	454	c.96C>T	c.(94-96)taC>taT	p.Y32Y	EPCAM_ENST00000405271.1_Silent_p.Y60Y	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	32					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GTGAAAACTACAAGCTGGCCG	0.323																																						ENST00000263735.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						c.(94-96)taC>taT		epithelial cell adhesion molecule							81.0	74.0	76.0					2																	47600621		2203	4300	6503	SO:0001819	synonymous_variant	4072				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47600621C>T	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.96C>T	2.37:g.47600621C>T			Somatic				EPCAM_ENST00000405271.1_Silent_p.Y60Y	p.Y32Y	NM_002354.2	NP_002345.2	WXS	Illumina GAIIx	Phase_I	P16422	EPCAM_HUMAN			2	454	+			32					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Silent	SNP	ENST00000263735.4	37	c.96C>T	CCDS1833.1																																																																																				0.323	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			3	38	0	0	0	1	0	3	38				
DYSF	8291	broad.mit.edu	37	2	71909676	71909676	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:71909676T>A	ENST00000258104.3	+	54	6350	c.6073T>A	c.(6073-6075)Ttc>Atc	p.F2025I	DYSF_ENST00000394120.2_Missense_Mutation_p.F2026I|DYSF_ENST00000409366.1_Missense_Mutation_p.F2047I|DYSF_ENST00000410020.3_Missense_Mutation_p.F2064I|DYSF_ENST00000409582.3_Missense_Mutation_p.F2063I|DYSF_ENST00000409651.1_Missense_Mutation_p.F2057I|DYSF_ENST00000429174.2_Missense_Mutation_p.F2046I|DYSF_ENST00000410041.1_Missense_Mutation_p.F2043I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.F2056I|DYSF_ENST00000409744.1_Missense_Mutation_p.F2033I|DYSF_ENST00000409762.1_Missense_Mutation_p.F2042I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2025					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGACACCTCCTTCCTGTGGTT	0.547																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(6073-6075)Ttc>Atc		dysferlin							161.0	129.0	140.0					2																	71909676		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909676T>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6073T>A	2.37:g.71909676T>A	ENSP00000258104:p.Phe2025Ile		Somatic				DYSF_ENST00000394120.2_Missense_Mutation_p.F2026I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.F2046I|DYSF_ENST00000413539.2_Missense_Mutation_p.F2056I|DYSF_ENST00000410020.3_Missense_Mutation_p.F2064I|DYSF_ENST00000410041.1_Missense_Mutation_p.F2043I|DYSF_ENST00000409744.1_Missense_Mutation_p.F2033I|DYSF_ENST00000409762.1_Missense_Mutation_p.F2042I|DYSF_ENST00000409651.1_Missense_Mutation_p.F2057I|DYSF_ENST00000409582.3_Missense_Mutation_p.F2063I|DYSF_ENST00000409366.1_Missense_Mutation_p.F2047I	p.F2025I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			54	6350	+			2025					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.6073T>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	31	5.087711	0.94100	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	M	0.90309	3.105	0.58432	D	0.999997	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.997;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.99;0.999;0.97;0.998;0.999;0.999;0.997	D	0.94368	0.7593	10	0.87932	D	0	-25.343	13.1302	0.59377	0.0:0.0:0.0:1.0	.	789;2057;2064;2047;2012;2043;2033;2042;2032;2056;2063;2046;2011;2026;2025	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	I	2056;2042;2063;2046;2025;2057;2026;2033;2047;2064;2043	ENSP00000407046:F2056I;ENSP00000387137:F2042I;ENSP00000386547:F2063I;ENSP00000398305:F2046I;ENSP00000258104:F2025I;ENSP00000386683:F2057I;ENSP00000377678:F2026I;ENSP00000386285:F2033I;ENSP00000386512:F2047I;ENSP00000386881:F2064I;ENSP00000386617:F2043I	ENSP00000258104:F2025I	F	+	1	0	DYSF	71763184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.971000	0.88012	2.034000	0.60081	0.533000	0.62120	TTC		0.547	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		123	390	0	0	0	1	0	123	390				
FAM111A	63901	broad.mit.edu	37	11	58919627	58919627	+	Missense_Mutation	SNP	T	T	A	rs371113983		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:58919627T>A	ENST00000528737.1	+	5	3304	c.486T>A	c.(484-486)agT>agA	p.S162R	FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R|FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R|FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R|FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	162					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAAGTAAAAGTAAGCAGAAGG	0.413																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(484-486)agT>agA		family with sequence similarity 111, member A							105.0	102.0	103.0					11																	58919627		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919627T>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.486T>A	11.37:g.58919627T>A	ENSP00000434435:p.Ser162Arg		Somatic				FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R|FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R|FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R|FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R	p.S162R			WXS	Illumina GAIIx	Phase_I	Q96PZ2	F111A_HUMAN			5	3304	+		all_epithelial(135;0.139)	162					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.486T>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365703	0.61513	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000527629;ENST00000533703;ENST00000531147	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.45	-1.68	0.08212	.	0.496080	0.17830	N	0.160566	T	0.52853	0.1760	M	0.66939	2.045	0.09310	N	1	D	0.69078	0.997	D	0.63597	0.916	T	0.44574	-0.9319	10	0.72032	D	0.01	-15.638	1.659	0.02787	0.2664:0.0769:0.2598:0.3968	.	162	Q96PZ2	F111A_HUMAN	R	162	ENSP00000434435:S162R;ENSP00000406683:S162R;ENSP00000355264:S162R;ENSP00000433154:S162R;ENSP00000431631:S162R	ENSP00000355264:S162R	S	+	3	2	FAM111A	58676203	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.133000	0.10451	-0.130000	0.11599	0.455000	0.32223	AGT		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		5	235	0	0	0	1	0	5	235				
SRBD1	55133	broad.mit.edu	37	2	45832575	45832575	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:45832575T>A	ENST00000263736.4	-	2	68	c.6A>T	c.(4-6)tcA>tcT	p.S2S		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	2					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTGGCAATGATGACATCTAGA	0.343																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(4-6)tcA>tcT		S1 RNA binding domain 1							154.0	152.0	153.0					2																	45832575		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45832575T>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.6A>T	2.37:g.45832575T>A			Somatic					p.S2S	NM_018079.4	NP_060549.4	WXS	Illumina GAIIx	Phase_I	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		2	68	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	2					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.6A>T	CCDS1823.1																																																																																				0.343	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		112	138	0	0	0	1	0	112	138				
MCTP2	55784	broad.mit.edu	37	15	95001402	95001402	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:95001402A>G	ENST00000357742.4	+	19	2287	c.2287A>G	c.(2287-2289)Atg>Gtg	p.M763V	MCTP2_ENST00000451018.3_Missense_Mutation_p.M708V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	763					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAATCTATATGGTACAGGA	0.318																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(2287-2289)Atg>Gtg		multiple C2 domains, transmembrane 2							112.0	119.0	117.0					15																	95001402		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:95001402A>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2287A>G	15.37:g.95001402A>G	ENSP00000350377:p.Met763Val		Somatic				MCTP2_ENST00000451018.3_Missense_Mutation_p.M708V	p.M763V	NM_018349.3	NP_060819.3	WXS	Illumina GAIIx	Phase_I	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		19	2287	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		763					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.2287A>G	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031019	0.54790	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.66815	-0.23;-0.05	4.94	4.94	0.65067	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.961;1.0	P;D	0.83275	0.794;0.996	T	0.81048	-0.1109	10	0.36615	T	0.2	.	14.931	0.70914	1.0:0.0:0.0:0.0	.	708;763	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	V	708;763	ENSP00000395109:M708V;ENSP00000350377:M763V	ENSP00000350377:M763V	M	+	1	0	MCTP2	92802406	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.863000	0.69568	1.976000	0.57569	0.454000	0.30748	ATG		0.318	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		27	39	0	0	0	1	0	27	39				
ZNF75D	7626	broad.mit.edu	37	X	134421295	134421295	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:134421295A>T	ENST00000370766.3	-	7	4016	c.1307T>A	c.(1306-1308)cTa>cAa	p.L436Q	ZNF75D_ENST00000370764.1_Missense_Mutation_p.L341Q|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	436					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTGTGTGTGTAGATTTGTGTT	0.378																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1306-1308)cTa>cAa		zinc finger protein 75D							177.0	148.0	158.0					X																	134421295		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421295A>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1307T>A	X.37:g.134421295A>T	ENSP00000359802:p.Leu436Gln		Somatic				ZNF75D_ENST00000370764.1_Missense_Mutation_p.L341Q|ZNF75D_ENST00000494295.1_Intron	p.L436Q	NM_007131.3	NP_009062.2	WXS	Illumina GAIIx	Phase_I	P51815	ZN75D_HUMAN			7	4016	-			436					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.1307T>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786577	0.49997	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.14144	2.53;2.53	2.87	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28641	N	0.014633	T	0.47948	0.1473	H	0.97659	4.05	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47959	-0.9076	10	0.87932	D	0	.	8.6148	0.33824	1.0:0.0:0.0:0.0	.	436;341	P51815;A6NK62	ZN75D_HUMAN;.	Q	436;341	ENSP00000359802:L436Q;ENSP00000359800:L341Q	ENSP00000359800:L341Q	L	-	2	0	ZNF75D	134248961	0.985000	0.35326	0.038000	0.18304	0.872000	0.50106	7.568000	0.82369	1.376000	0.46267	0.345000	0.21793	CTA		0.378	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		5	290	0	0	0	1	0	5	290				
HEPHL1	341208	broad.mit.edu	37	11	93815589	93815589	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:93815589A>G	ENST00000315765.9	+	10	1730	c.1722A>G	c.(1720-1722)ggA>ggG	p.G574G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	574	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTAGAAAGGAATAGACAAGG	0.343																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(1720-1722)ggA>ggG		hephaestin-like 1							72.0	66.0	68.0					11																	93815589		1825	4087	5912	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93815589A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1722A>G	11.37:g.93815589A>G			Somatic					p.G574G	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			10	1730	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	574			Plastocyanin-like 4.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.1722A>G	CCDS44710.1																																																																																				0.343	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		7	67	0	0	0	1	0	7	67				
NID2	22795	broad.mit.edu	37	14	52472479	52472479	+	Missense_Mutation	SNP	C	C	T	rs201207693		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr14:52472479C>T	ENST00000216286.5	-	21	4092	c.4093G>A	c.(4093-4095)Gca>Aca	p.A1365T	NID2_ENST00000541773.1_Missense_Mutation_p.A1264T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1365					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTAGACTGCAGTTATCCCG	0.418																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(4093-4095)Gca>Aca		nidogen 2 (osteonidogen)		C	THR/ALA	0,4406		0,0,2203	130.0	115.0	120.0		4093	5.3	1.0	14		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	NID2	NM_007361.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1365/1376	52472479	1,13005	2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52472479C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.4093G>A	14.37:g.52472479C>T	ENSP00000216286:p.Ala1365Thr		Somatic				NID2_ENST00000541773.1_Missense_Mutation_p.A1264T	p.A1365T	NM_007361.3	NP_031387.3	WXS	Illumina GAIIx	Phase_I	Q14112	NID2_HUMAN			21	4092	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1365					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.4093G>A	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.639|9.639	1.138536|1.138536	0.21123|0.21123	0.0|0.0	1.16E-4|1.16E-4	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773|ENST00000556572	D;D|.	0.84146|.	-1.81;-1.68|.	6.17|6.17	5.26|5.26	0.73747|0.73747	Six-bladed beta-propeller, TolB-like (1);|.	0.288540|.	0.39020|.	N|.	0.001488|.	T|T	0.50752|0.50752	0.1634|0.1634	L|L	0.39633|0.39633	1.23|1.23	0.30834|0.30834	N|N	0.736449|0.736449	B;B;B|.	0.30686|.	0.026;0.29;0.001|.	B;B;B|.	0.33196|.	0.016;0.159;0.007|.	T|T	0.53373|0.53373	-0.8448|-0.8448	10|5	0.12430|.	T|.	0.62|.	.|.	17.4035|17.4035	0.87467|0.87467	0.0:0.8754:0.1246:0.0|0.0:0.8754:0.1246:0.0	.|.	959;1264;1365|.	E7EPP3;Q14112-2;Q14112|.	.;.;NID2_HUMAN|.	T|Y	1365;959;1264|633	ENSP00000216286:A1365T;ENSP00000443730:A1264T|.	ENSP00000216286:A1365T|.	A|C	-|-	1|2	0|0	NID2|NID2	51542229|51542229	0.985000|0.985000	0.35326|0.35326	0.974000|0.974000	0.42286|0.42286	0.975000|0.975000	0.68041|0.68041	1.840000|1.840000	0.39230|0.39230	1.565000|1.565000	0.49641|0.49641	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.418	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			45	138	0	0	0	1	0	45	138				
SLC9A8	23315	broad.mit.edu	37	20	48467338	48467338	+	Intron	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr20:48467338A>T	ENST00000361573.2	+	7	576				SLC9A8_ENST00000417961.1_Missense_Mutation_p.I192F|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8						ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTGTGTTTTATTTTACAGGC	0.358																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(574-576)Att>Ttt		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							105.0	96.0	99.0					20																	48467338		2203	4300	6503	SO:0001627	intron_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48467338A>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.535-9A>T	20.37:g.48467338A>T			Somatic				SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000541138.1_Intron	p.I192F	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		7	784	+			178					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.574A>T	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533412	0.64972	.	.	ENSG00000197818	ENST00000417961	T	0.65178	-0.14	5.4	4.18	0.49190	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63116	-0.6709	6	0.48119	T	0.1	.	5.367	0.16119	0.7133:0.0:0.0861:0.2007	.	.	.	.	F	192	ENSP00000416418:I192F	ENSP00000416418:I192F	I	+	1	0	SLC9A8	47900745	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	0.316000	0.19469	2.158000	0.67659	0.528000	0.53228	ATT		0.358	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		5	78	0	0	0	1	0	5	78				
EHHADH	1962	broad.mit.edu	37	3	184922240	184922240	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:184922240C>T	ENST00000231887.3	-	6	949	c.874G>A	c.(874-876)Gca>Aca	p.A292T	EHHADH_ENST00000456310.1_Missense_Mutation_p.A196T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	292	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CGCGCTGATGCTGTTTTCCAC	0.483																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(874-876)Gca>Aca		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						112.0	107.0	109.0					3																	184922240		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922240C>T	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.874G>A	3.37:g.184922240C>T	ENSP00000231887:p.Ala292Thr		Somatic				EHHADH_ENST00000456310.1_Missense_Mutation_p.A196T	p.A292T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	949	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		292			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.874G>A	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702534	0.30232	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.75704	-0.55;-0.96	5.53	3.49	0.39957	.	0.426413	0.27096	N	0.020959	T	0.71022	0.3291	L	0.58101	1.795	0.31197	N	0.700232	B	0.34241	0.444	B	0.39706	0.307	T	0.67894	-0.5552	10	0.12766	T	0.61	-12.9716	13.908	0.63848	0.3154:0.6846:0.0:0.0	.	292	Q08426	ECHP_HUMAN	T	292;292;196	ENSP00000231887:A292T;ENSP00000387746:A196T	ENSP00000231887:A292T	A	-	1	0	EHHADH	186404934	0.005000	0.15991	0.987000	0.45799	0.715000	0.41141	0.193000	0.17116	1.273000	0.44346	0.650000	0.86243	GCA		0.483	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			103	227	0	0	0	1	0	103	227				
ADCY4	196883	broad.mit.edu	37	14	24795283	24795283	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr14:24795283A>T	ENST00000310677.4	-	13	1769		c.e13+1		ADCY4_ENST00000396747.3_Splice_Site|ADCY4_ENST00000418030.2_Splice_Site|ADCY4_ENST00000554068.2_Splice_Site	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTTCTCCGTACTTCTGCGAG	0.612																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e13+1		adenylate cyclase 4							79.0	75.0	76.0					14																	24795283		2203	4300	6503	SO:0001630	splice_region_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24795283A>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1655+1T>A	14.37:g.24795283A>T			Somatic				ADCY4_ENST00000418030.2_Splice_Site|ADCY4_ENST00000396747.3_Splice_Site|ADCY4_ENST00000554068.2_Splice_Site		NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	WXS	Illumina GAIIx	Phase_I	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	13	1769	-								B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Splice_Site	SNP	ENST00000310677.4	37		CCDS9627.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887445	0.52014	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2554	0.43394	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADCY4	23865123	1.000000	0.71417	0.996000	0.52242	0.738000	0.42128	4.573000	0.60893	1.938000	0.56188	0.482000	0.46254	.		0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		Intron	5	175	0	0	0	1	0	5	175				
LPA	4018	broad.mit.edu	37	6	161027645	161027645	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:161027645G>A	ENST00000316300.5	-	17	2693	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	LPA_ENST00000447678.1_Silent_p.A883A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3391	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AACAATAAGGGGCTGCCACAG	0.517																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2647-2649)gcC>gcT		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						126.0	131.0	129.0					6																	161027645		2107	4271	6378	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027645G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2649C>T	6.37:g.161027645G>A			Somatic				LPA_ENST00000316300.5_Silent_p.A883A	p.A883A	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2769	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3391			Kringle 8.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.2649C>T	CCDS43523.1																																																																																				0.517	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	531	0	0	0	1	0	5	531				
HIST2H2AC	8338	broad.mit.edu	37	1	149858608	149858608	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:149858608A>G	ENST00000331380.2	+	1	84	c.84A>G	c.(82-84)gtA>gtG	p.V28V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	28						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGTTCCCGGTAGGGCGAGTGC	0.672																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(82-84)gtA>gtG		histone cluster 2, H2ac							62.0	69.0	67.0					1																	149858608		2203	4298	6501	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858608A>G	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.84A>G	1.37:g.149858608A>G			Somatic					p.V28V	NM_003517.2	NP_003508.1	WXS	Illumina GAIIx	Phase_I	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	84	+	Breast(34;0.0124)|all_hematologic(923;0.127)		28					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.84A>G	CCDS937.1																																																																																				0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		5	279	0	0	0	1	0	5	279				
ZBTB10	65986	broad.mit.edu	37	8	81412314	81412314	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr8:81412314G>A	ENST00000430430.1	+	3	2337	c.1558G>A	c.(1558-1560)Ggt>Agt	p.G520S	ZBTB10_ENST00000379091.4_Missense_Mutation_p.G228S|ZBTB10_ENST00000455036.3_Missense_Mutation_p.G520S|ZBTB10_ENST00000426744.2_Missense_Mutation_p.G520S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAAAATGATGGTTGTAATGT	0.403																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(1558-1560)Ggt>Agt		zinc finger and BTB domain containing 10							100.0	98.0	99.0					8																	81412314		1846	4095	5941	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81412314G>A	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1558G>A	8.37:g.81412314G>A	ENSP00000387462:p.Gly520Ser		Somatic				ZBTB10_ENST00000455036.3_Missense_Mutation_p.G520S|ZBTB10_ENST00000379091.4_Missense_Mutation_p.G228S|ZBTB10_ENST00000426744.2_Missense_Mutation_p.G520S	p.G520S	NM_001277145.1	NP_001264074.1	WXS	Illumina GAIIx	Phase_I	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		3	2337	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		520					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.1558G>A	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509641	0.44660	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.10288	2.96;2.91;2.91;2.89	5.41	5.41	0.78517	.	0.366079	0.28841	N	0.013975	T	0.10337	0.0253	L	0.27053	0.805	0.41498	D	0.988264	B;P;P;P	0.41848	0.201;0.651;0.763;0.554	B;B;B;B	0.39660	0.026;0.162;0.306;0.154	T	0.10382	-1.0632	10	0.42905	T	0.14	.	16.551	0.84473	0.0:0.1303:0.8697:0.0	.	376;520;520;228	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	S	228;520;520;520;348	ENSP00000368384:G228S;ENSP00000387462:G520S;ENSP00000412036:G520S;ENSP00000416134:G520S	ENSP00000368384:G228S	G	+	1	0	ZBTB10	81574869	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.008000	0.49544	2.706000	0.92434	0.650000	0.86243	GGT		0.403	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		22	90	0	0	0	1	0	22	90				
PGLYRP4	57115	broad.mit.edu	37	1	153303264	153303264	+	Silent	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:153303264G>C	ENST00000359650.5	-	9	1165	c.1101C>G	c.(1099-1101)acC>acG	p.T367T	PGLYRP4_ENST00000368739.3_Silent_p.T363T|RNU6-160P_ENST00000384591.1_RNA	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	367					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGAGGCCAGGTGCTGATGA	0.552																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(1087-1089)acC>acG		peptidoglycan recognition protein 4							122.0	113.0	116.0					1																	153303264		2203	4300	6503	SO:0001819	synonymous_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153303264G>C	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.1101C>G	1.37:g.153303264G>C			Somatic				PGLYRP4_ENST00000359650.5_Silent_p.T367T	p.T363T			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		9	1447	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		367					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	ENST00000359650.5	37	c.1089C>G	CCDS30871.1																																																																																				0.552	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		129	298	0	0	0	1	0	129	298				
GABRA4	2557	broad.mit.edu	37	4	46930359	46930359	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:46930359A>T	ENST00000264318.3	-	9	2530	c.1548T>A	c.(1546-1548)agT>agA	p.S516R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	516			S -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCTATTTTACTTGTGCCAG	0.428																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1546-1548)agT>agA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						130.0	127.0	128.0					4																	46930359		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930359A>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1548T>A	4.37:g.46930359A>T	ENSP00000264318:p.Ser516Arg		Somatic					p.S516R	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	WXS	Illumina GAIIx	Phase_I	P48169	GBRA4_HUMAN			9	2530	-			516		S -> R (in a breast cancer sample; somatic mutation).			Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1548T>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176275	0.78564	.	.	ENSG00000109158	ENST00000264318	D	0.83506	-1.73	5.82	0.981	0.19756	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	L	0.54323	1.7	0.40924	D	0.984334	D	0.89917	1.0	D	0.97110	1.0	D	0.85483	0.1180	10	0.87932	D	0	.	9.2477	0.37536	0.7269:0.0:0.2731:0.0	.	516	P48169	GBRA4_HUMAN	R	516	ENSP00000264318:S516R	ENSP00000264318:S516R	S	-	3	2	GABRA4	46625116	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.775000	0.38584	0.494000	0.27859	0.528000	0.53228	AGT		0.428	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			8	149	0	0	0	1	0	8	149				
GDI2	2665	broad.mit.edu	37	10	5808591	5808591	+	Silent	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:5808591G>C	ENST00000380191.4	-	9	1292	c.1002C>G	c.(1000-1002)gtC>gtG	p.V334V	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Silent_p.V338V|GDI2_ENST00000380181.3_Silent_p.V289V	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	334					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AGATCATGCAGACGTAGATAT	0.453																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(1000-1002)gtC>gtG		GDP dissociation inhibitor 2							89.0	80.0	83.0					10																	5808591		2203	4300	6503	SO:0001819	synonymous_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5808591G>C	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1002C>G	10.37:g.5808591G>C			Somatic				GDI2_ENST00000380181.3_Silent_p.V289V|GDI2_ENST00000380132.4_Silent_p.V338V|GDI2_ENST00000479928.1_5'UTR	p.V334V	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	WXS	Illumina GAIIx	Phase_I	P50395	GDIB_HUMAN			9	1292	-			334					O43928|Q5SX88|Q9UQM6	Silent	SNP	ENST00000380191.4	37	c.1002C>G	CCDS7071.1																																																																																				0.453	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		10	120	0	0	0	1	0	10	120				
TCERG1	10915	broad.mit.edu	37	5	145849222	145849222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:145849222T>A	ENST00000296702.5	+	7	1352	c.1314T>A	c.(1312-1314)taT>taA	p.Y438*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.Y417*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	438	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACTGAATATAAAACAGCAG	0.403																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1312-1314)taT>taA		transcription elongation regulator 1							127.0	141.0	136.0					5																	145849222		2203	4300	6503	SO:0001587	stop_gained	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145849222T>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1314T>A	5.37:g.145849222T>A	ENSP00000296702:p.Tyr438*		Somatic				TCERG1_ENST00000394421.2_Nonsense_Mutation_p.Y417*	p.Y438*	NM_006706.3	NP_006697.2	WXS	Illumina GAIIx	Phase_I	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1352	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	438			WW 2.		Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	c.1314T>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219008	0.79464	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.71	4.35	0.52113	.	0.062212	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-10.0844	7.832	0.29349	0.0:0.1484:0.0:0.8516	.	.	.	.	X	438;417	.	ENSP00000296702:Y438X	Y	+	3	2	TCERG1	145829415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.014000	0.40951	2.182000	0.69389	0.460000	0.39030	TAT		0.403	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	340	0	0	0	1	0	6	340				
PTPRO	5800	broad.mit.edu	37	12	15669843	15669843	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:15669843A>G	ENST00000281171.4	+	9	2062	c.1732A>G	c.(1732-1734)Acc>Gcc	p.T578A	PTPRO_ENST00000543886.1_Missense_Mutation_p.T578A|PTPRO_ENST00000348962.2_Missense_Mutation_p.T578A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	578	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATCAGAGTGGACCACCTACTA	0.443																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1732-1734)Acc>Gcc		protein tyrosine phosphatase, receptor type, O							246.0	207.0	220.0					12																	15669843		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669843A>G	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1732A>G	12.37:g.15669843A>G	ENSP00000281171:p.Thr578Ala		Somatic				PTPRO_ENST00000543886.1_Missense_Mutation_p.T578A|PTPRO_ENST00000348962.2_Missense_Mutation_p.T578A	p.T578A	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			9	2062	+		Hepatocellular(102;0.244)	578			Fibronectin type-III 6.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1732A>G	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525048	0.85600	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04015	3.74;3.73	5.17	5.17	0.71159	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.133537	0.34628	N	0.003812	T	0.06462	0.0166	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46512	0.879;0.807;0.807	P;B;B	0.45639	0.488;0.294;0.294	T	0.44081	-0.9351	10	0.44086	T	0.13	.	15.1779	0.72931	1.0:0.0:0.0:0.0	.	578;578;578	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	A	578	ENSP00000281171:T578A;ENSP00000343434:T578A	ENSP00000281171:T578A	T	+	1	0	PTPRO	15561110	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.388000	0.90170	2.160000	0.67779	0.519000	0.50382	ACC		0.443	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			9	1134	0	0	0	1	0	9	1134				
PHF8	23133	broad.mit.edu	37	X	54049278	54049278	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:54049278T>A	ENST00000357988.5	-	3	565		c.e3-2		PHF8_ENST00000338946.6_Splice_Site|PHF8_ENST00000338154.6_Splice_Site|PHF8_ENST00000322659.8_Splice_Site	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAACACAACTGAAAAAGAGA	0.413																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.e3-2		PHD finger protein 8							40.0	31.0	34.0					X																	54049278		2203	4300	6503	SO:0001630	splice_region_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54049278T>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.207-2A>T	X.37:g.54049278T>A			Somatic				PHF8_ENST00000338946.6_Splice_Site|PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000357988.5_Splice_Site		NM_015107.2	NP_055922.1	WXS	Illumina GAIIx	Phase_I	Q9UPP1	PHF8_HUMAN			3	603	-								B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Splice_Site	SNP	ENST00000357988.5	37		CCDS55420.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946654	0.73672	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.538	0.61657	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF8	54066003	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.989000	0.88205	1.840000	0.53500	0.437000	0.28790	.		0.413	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	Intron	5	112	0	0	0	1	0	5	112				
OR9G1	390174	broad.mit.edu	37	11	56468430	56468430	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:56468430C>T	ENST00000312153.1	+	1	567	c.567C>T	c.(565-567)ggC>ggT	p.G189G		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGCCTGTGGCGAGAAGGGCG	0.473																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(565-567)ggC>ggT		olfactory receptor, family 9, subfamily G, member 1							114.0	116.0	115.0					11																	56468430		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468430C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.567C>T	11.37:g.56468430C>T			Somatic					p.G189G	NM_001005213.1	NP_001005213.1	WXS	Illumina GAIIx	Phase_I					1	567	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.567C>T	CCDS31536.1																																																																																				0.473	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		20	158	0	0	0	1	0	20	158				
VSIG4	11326	broad.mit.edu	37	X	65253460	65253460	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:65253460G>A	ENST00000374737.4	-	2	376	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	VSIG4_ENST00000412866.2_Missense_Mutation_p.H90Y|VSIG4_ENST00000455586.2_Missense_Mutation_p.H90Y	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	90	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAACCTTGTGGCTCACATGC	0.552																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(268-270)Cac>Tac		V-set and immunoglobulin domain containing 4							131.0	111.0	118.0					X																	65253460		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253460G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.268C>T	X.37:g.65253460G>A	ENSP00000363869:p.His90Tyr		Somatic				VSIG4_ENST00000412866.2_Missense_Mutation_p.H90Y|VSIG4_ENST00000374737.4_Missense_Mutation_p.H90Y	p.H90Y	NM_001184830.1	NP_001171759.1	WXS	Illumina GAIIx	Phase_I	Q9Y279	VSIG4_HUMAN			2	394	-			90			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.268C>T	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.615|3.615	-0.078798|-0.078798	0.07141|0.07141	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866|ENST00000427538	T;T;T|.	0.65178|.	-0.14;-0.14;-0.14|.	4.93|4.93	1.79|1.79	0.24919|0.24919	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.086990|.	0.07053|.	N|.	0.832236|.	T|T	0.39489|0.39489	0.1080|0.1080	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;P;B;B;B|.	0.40266|.	0.001;0.71;0.107;0.0;0.132|.	B;B;B;B;B|.	0.27796|.	0.001;0.083;0.061;0.0;0.082|.	T|T	0.31641|0.31641	-0.9936|-0.9936	10|5	0.18276|.	T|.	0.48|.	-1.2609|-1.2609	3.494|3.494	0.07648|0.07648	0.1057:0.1517:0.5627:0.1799|0.1057:0.1517:0.5627:0.1799	.|.	90;90;80;90;90|.	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279|.	.;.;.;.;VSIG4_HUMAN|.	Y|L	90|16	ENSP00000363869:H90Y;ENSP00000411581:H90Y;ENSP00000394143:H90Y|.	ENSP00000363869:H90Y|.	H|P	-|-	1|2	0|0	VSIG4|VSIG4	65170185|65170185	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	0.879000|0.879000	0.28146|0.28146	0.339000|0.339000	0.23719|0.23719	0.594000|0.594000	0.82650|0.82650	CAC|CCA		0.552	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		178	330	0	0	0	1	0	178	330				
CERS2	29956	broad.mit.edu	37	1	150940953	150940953	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:150940953A>T	ENST00000271688.6	-	3	595	c.209T>A	c.(208-210)aTa>aAa	p.I70K	CERS2_ENST00000561294.1_Missense_Mutation_p.I70K|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.I70K|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	70					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTTCTCCTTTATGTTCAAGAG	0.557																																						ENST00000271688.6																			0											c.(208-210)aTa>aAa		ceramide synthase 2							73.0	73.0	73.0					1																	150940953		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940953A>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.209T>A	1.37:g.150940953A>T	ENSP00000271688:p.Ile70Lys		Somatic				CERS2_ENST00000561294.1_Missense_Mutation_p.I70K|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.I70K	p.I70K	NM_181746.3	NP_859530.1	WXS	Illumina GAIIx	Phase_I	Q96G23	CERS2_HUMAN			3	595	-			70					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.209T>A	CCDS973.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019100	0.75275	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609;ENST00000457392	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.08	5.08	0.68730	Homeobox (1);Homeodomain-like (1);	0.194566	0.43747	D	0.000527	T	0.38321	0.1036	M	0.82323	2.585	0.50813	D	0.999897	P	0.37781	0.608	P	0.55667	0.781	T	0.28106	-1.0054	10	0.87932	D	0	-4.264	14.7019	0.69162	1.0:0.0:0.0:0.0	.	70	Q96G23	CERS2_HUMAN	K	70;70;90;70;70;70	ENSP00000357950:I70K;ENSP00000271688:I70K;ENSP00000357945:I90K;ENSP00000355020:I70K;ENSP00000393239:I70K;ENSP00000394012:I70K	ENSP00000271688:I70K	I	-	2	0	CERS2	149207577	0.942000	0.31987	0.008000	0.14137	0.802000	0.45316	8.516000	0.90552	2.138000	0.66242	0.533000	0.62120	ATA		0.557	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		5	130	0	0	0	1	0	5	130				
SPATA5	166378	broad.mit.edu	37	4	123855337	123855337	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:123855337G>A	ENST00000274008.4	+	5	660	c.591G>A	c.(589-591)ggG>ggA	p.G197G	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	197					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAGTGAAAGGGGCAGATGGCA	0.463																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(589-591)ggG>ggA		spermatogenesis associated 5							94.0	90.0	91.0					4																	123855337		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855337G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.591G>A	4.37:g.123855337G>A			Somatic				SPATA5_ENST00000422835.2_3'UTR	p.G197G	NM_145207.2	NP_660208.2	WXS	Illumina GAIIx	Phase_I	Q8NB90	SPAT5_HUMAN			5	660	+			197					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.591G>A	CCDS3730.1																																																																																				0.463	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		15	111	0	0	0	1	0	15	111				
OTUD7A	161725	broad.mit.edu	37	15	31851205	31851205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:31851205C>A	ENST00000307050.4	-	3	609	c.517G>T	c.(517-519)Gag>Tag	p.E173*	OTUD7A_ENST00000382902.1_Nonsense_Mutation_p.E173*	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	173	TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E173Q(1)|p.E173K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGCCTGCTCGATCAAGTCC	0.572																																						ENST00000382902.1																			2	Substitution - Missense(2)	p.E173Q(1)|p.E173K(1)	urinary_tract(1)|lung(1)	endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(517-519)Gag>Tag		OTU domain containing 7A							91.0	70.0	77.0					15																	31851205		2201	4300	6501	SO:0001587	stop_gained	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31851205C>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.517G>T	15.37:g.31851205C>A	ENSP00000305926:p.Glu173*		Somatic				OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.E173*	p.E173*			WXS	Illumina GAIIx	Phase_I	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	3	609	-		all_lung(180;1.6e-09)	173			TRAF-binding (By similarity).		Q8IWK5	Nonsense_Mutation	SNP	ENST00000307050.4	37	c.517G>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	37	6.287202	0.97444	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-35.9613	19.6626	0.95878	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000305926:E173X	E	-	1	0	OTUD7A	29638497	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.047000	0.76599	2.626000	0.88956	0.462000	0.41574	GAG		0.572	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		3	113	1	0	0.150653	1	0.154275	3	113				
FBXO9	26268	broad.mit.edu	37	6	52943655	52943655	+	Silent	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:52943655T>C	ENST00000244426.6	+	4	568	c.396T>C	c.(394-396)acT>acC	p.T132T	FBXO9_ENST00000370939.3_Silent_p.T88T|FBXO9_ENST00000323557.7_Silent_p.T122T	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	132					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TCAAGATTACTTATACCCGGT	0.363																																						ENST00000244426.6																			0				kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9						c.(394-396)acT>acC		F-box protein 9							125.0	117.0	119.0					6																	52943655		1868	4096	5964	SO:0001819	synonymous_variant	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52943655T>C	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.396T>C	6.37:g.52943655T>C			Somatic				FBXO9_ENST00000323557.7_Silent_p.T122T|FBXO9_ENST00000370939.3_Silent_p.T88T	p.T132T	NM_012347.4	NP_036479.1	WXS	Illumina GAIIx	Phase_I	Q9UK97	FBX9_HUMAN			4	568	+	Lung NSC(77;0.103)		132					A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Silent	SNP	ENST00000244426.6	37	c.396T>C	CCDS55023.1																																																																																				0.363	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			14	26	0	0	0	1	0	14	26				
UTRN	7402	broad.mit.edu	37	6	144811267	144811267	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:144811267C>T	ENST00000367545.3	+	30	4195	c.4195C>T	c.(4195-4197)Cgt>Tgt	p.R1399C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1399	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGAAATATGCGTTCTCAGCC	0.468																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(4195-4197)Cgt>Tgt		utrophin							86.0	92.0	90.0					6																	144811267		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144811267C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4195C>T	6.37:g.144811267C>T	ENSP00000356515:p.Arg1399Cys		Somatic					p.R1399C	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	30	4195	+		Ovarian(120;0.218)	1399			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4195C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251755	0.80135	.	.	ENSG00000152818	ENST00000367545	T	0.19394	2.15	5.58	3.78	0.43462	.	0.122821	0.34580	N	0.003857	T	0.23410	0.0566	L	0.54323	1.7	0.24939	N	0.991861	D	0.89917	1.0	D	0.66602	0.945	T	0.05599	-1.0875	10	0.87932	D	0	.	11.1245	0.48310	0.1286:0.8046:0.0:0.0668	.	1399	P46939	UTRO_HUMAN	C	1399	ENSP00000356515:R1399C	ENSP00000356515:R1399C	R	+	1	0	UTRN	144852960	0.978000	0.34361	0.005000	0.12908	0.804000	0.45430	2.558000	0.45879	0.814000	0.34374	0.655000	0.94253	CGT		0.468	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			3	144	0	0	0	1	0	3	144				
RGS3	5998	broad.mit.edu	37	9	116356377	116356377	+	Intron	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:116356377G>C	ENST00000374140.2	+	23	3289				RGS3_ENST00000462403.1_Missense_Mutation_p.E60Q|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCCTGTCTGAGTCCCAGCC	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(178-180)Gag>Cag		regulator of G-protein signaling 3							71.0	80.0	77.0					9																	116356377		2203	4298	6501	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356377G>C	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-333G>C	9.37:g.116356377G>C			Somatic				RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron	p.E60Q	NM_144489.2	NP_652760.2	WXS	Illumina GAIIx	Phase_I	P49796	RGS3_HUMAN			1	612	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.178G>C	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872060	0.51695	.	.	ENSG00000138835	ENST00000462403	T	0.61158	0.13	5.42	4.52	0.55395	.	.	.	.	.	T	0.34106	0.0886	N	0.08118	0	0.80722	D	1	B	0.30482	0.281	B	0.24701	0.055	T	0.27739	-1.0065	9	0.87932	D	0	.	8.2015	0.31428	0.0854:0.1569:0.7577:0.0	.	60	Q5VZ06	.	Q	60	ENSP00000436168:E60Q	ENSP00000436168:E60Q	E	+	1	0	RGS3	115396198	0.991000	0.36638	1.000000	0.80357	0.785000	0.44390	2.087000	0.41653	1.263000	0.44181	0.650000	0.86243	GAG		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		11	19	0	0	0	1	0	11	19				
CADM1	23705	broad.mit.edu	37	11	115102194	115102194	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:115102194C>T	ENST00000452722.3	-	4	461	c.441G>A	c.(439-441)ctG>ctA	p.L147L	CADM1_ENST00000331581.6_Silent_p.L147L|CADM1_ENST00000536727.1_Silent_p.L147L|CADM1_ENST00000542447.2_Silent_p.L147L|CADM1_ENST00000537058.1_Silent_p.L147L|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1											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)		TATCGATCATCAGATTACGTG	0.418																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(439-441)ctG>ctA		cell adhesion molecule 1							186.0	156.0	166.0					11																	115102194		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.chr11:115102194C>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.441G>A	11.37:g.115102194C>T			Somatic				CADM1_ENST00000452722.2_Silent_p.L147L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.L147L|CADM1_ENST00000537058.1_Silent_p.L147L|CADM1_ENST00000331581.6_Silent_p.L147L	p.L147L	NM_001098517.1	NP_001091987.1	WXS	Illumina GAIIx	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	4	569	-	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)	147			Ig-like C2-type 1.			Silent	SNP	ENST00000452722.3	37	c.441G>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	9.520	1.107919	0.20714	.	.	ENSG00000182985	ENST00000545380	.	.	.	6.17	5.26	0.73747	.	.	.	.	.	T	0.64271	0.2583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63171	-0.6697	4	.	.	.	.	12.3955	0.55382	0.0:0.8659:0.0:0.1341	.	.	.	.	N	146	.	.	D	-	1	0	CADM1	114607404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.886000	0.28241	1.616000	0.50265	0.655000	0.94253	GAT		0.418	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		94	211	0	0	0	1	0	94	211				
MGEA5	10724	broad.mit.edu	37	10	103565869	103565869	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:103565869C>T	ENST00000361464.3	-	6	1079	c.684G>A	c.(682-684)gtG>gtA	p.V228V	MGEA5_ENST00000357797.5_Silent_p.V228V|MGEA5_ENST00000370094.3_Silent_p.V228V|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000439817.1_Silent_p.V228V	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	228					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAGACTGAGACACATTTGGAT	0.353																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(682-684)gtG>gtA		meningioma expressed antigen 5 (hyaluronidase)							63.0	60.0	61.0					10																	103565869		2203	4300	6503	SO:0001819	synonymous_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103565869C>T	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.684G>A	10.37:g.103565869C>T			Somatic				MGEA5_ENST00000439817.1_Silent_p.V228V|MGEA5_ENST00000370094.3_Silent_p.V228V|MGEA5_ENST00000357797.5_Silent_p.V228V|MGEA5_ENST00000419011.2_3'UTR	p.V228V	NM_012215.3	NP_036347.1	WXS	Illumina GAIIx	Phase_I	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	6	1079	-		Colorectal(252;0.207)	228					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Silent	SNP	ENST00000361464.3	37	c.684G>A	CCDS7520.1																																																																																				0.353	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		9	24	0	0	0	1	0	9	24				
ITGA1	3672	broad.mit.edu	37	5	52160595	52160595	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:52160595A>T	ENST00000282588.6	+	4	753		c.e4-1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTATTTTTAGTTAATACAT	0.328																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e4-1		integrin, alpha 1							54.0	57.0	56.0					5																	52160595		2202	4298	6500	SO:0001630	splice_region_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52160595A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.296-1A>T	5.37:g.52160595A>T			Somatic						NM_181501.1	NP_852478.1	WXS	Illumina GAIIx	Phase_I	P56199	ITA1_HUMAN			4	753	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)						B2RNU0	Splice_Site	SNP	ENST00000282588.6	37		CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149212	0.57151	.	.	ENSG00000213949	ENST00000282588	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9183	0.79539	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA1	52196352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.321000	0.72881	2.211000	0.71520	0.477000	0.44152	.		0.328	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	Intron	6	39	0	0	0	1	0	6	39				
CES2	8824	broad.mit.edu	37	16	66976070	66976070	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr16:66976070C>G	ENST00000317091.4	+	9	2376	c.1392C>G	c.(1390-1392)ccC>ccG	p.P464P	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.P464P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	400					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	ATGGGGATCCCCAGACCCTCC	0.527																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1390-1392)ccC>ccG		carboxylesterase 2							129.0	103.0	112.0					16																	66976070		2200	4300	6500	SO:0001819	synonymous_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66976070C>G	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1392C>G	16.37:g.66976070C>G			Somatic				CES2_ENST00000417689.1_Silent_p.P464P	p.P464P	NM_003869.5	NP_003860.2	WXS	Illumina GAIIx	Phase_I	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	9	2376	+		Ovarian(137;0.0563)	400					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	ENST00000317091.4	37	c.1392C>G	CCDS10825.1																																																																																				0.527	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		36	63	0	0	0	1	0	36	63				
DDHD2	23259	broad.mit.edu	37	8	38110238	38110238	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr8:38110238A>T	ENST00000397166.2	+	14	2142		c.e14-1		DDHD2_ENST00000517385.1_Splice_Site|DDHD2_ENST00000520272.2_Splice_Site|DDHD2_ENST00000529845.1_Intron	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2						cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTTCCTATGTAGTTTGATCCT	0.418																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.e14-1		DDHD domain containing 2							126.0	112.0	117.0					8																	38110238		2203	4300	6503	SO:0001630	splice_region_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38110238A>T	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1618-1A>T	8.37:g.38110238A>T			Somatic				DDHD2_ENST00000517385.1_Splice_Site|DDHD2_ENST00000520272.2_Splice_Site|DDHD2_ENST00000529845.1_Intron		NM_015214.2	NP_056029.2	WXS	Illumina GAIIx	Phase_I	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		14	2142	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)						B3KWV2|B3KXB5|Q9H8X7	Splice_Site	SNP	ENST00000397166.2	37		CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910967	0.72983	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000526144	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7906	0.69841	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDHD2	38229395	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	8.665000	0.91144	2.143000	0.66587	0.260000	0.18958	.		0.418	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291	Intron	5	45	0	0	0	1	0	5	45				
POU6F2	11281	broad.mit.edu	37	7	39247033	39247033	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:39247033G>A	ENST00000403058.1	+	5	479	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	POU6F2_ENST00000559001.1_Missense_Mutation_p.V101M|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.V109M	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	109					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGGCCGGCGTGATGCCGGG	0.577																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(325-327)Gtg>Atg		POU class 6 homeobox 2							92.0	96.0	95.0					7																	39247033		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39247033G>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.325G>A	7.37:g.39247033G>A	ENSP00000384004:p.Val109Met		Somatic				POU6F2_ENST00000559001.1_Missense_Mutation_p.V101M|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.V109M	p.V109M			WXS	Illumina GAIIx	Phase_I	P78424	PO6F2_HUMAN			4	367	+			109					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.325G>A	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	34	5.357998	0.95854	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.87334	-2.24;-2.21	6.17	6.17	0.99709	.	4.356920	0.00424	N	0.000079	D	0.93592	0.7954	L	0.44542	1.39	0.50313	D	0.999863	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.80944	-0.1156	10	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	109;109	P78424-2;P78424	.;PO6F2_HUMAN	M	109;109;110	ENSP00000384004:V109M;ENSP00000430514:V109M	ENSP00000384004:V109M	V	+	1	0	POU6F2	39213558	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GTG		0.577	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		19	321	0	0	0	1	0	19	321				
B3GNT5	84002	broad.mit.edu	37	3	182987783	182987783	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:182987783A>G	ENST00000326505.3	+	2	727	c.197A>G	c.(196-198)cAc>cGc	p.H66R	B3GNT5_ENST00000460419.1_Missense_Mutation_p.H66R|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.H66R|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	66					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCTCTTAAGCACACCTCAGCG	0.408																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(196-198)cAc>cGc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							114.0	111.0	112.0					3																	182987783		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987783A>G	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.197A>G	3.37:g.182987783A>G	ENSP00000316173:p.His66Arg		Somatic				MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.H66R|B3GNT5_ENST00000465010.1_Missense_Mutation_p.H66R|MCF2L2_ENST00000447025.2_Intron	p.H66R	NM_032047.4	NP_114436.1	WXS	Illumina GAIIx	Phase_I	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	727	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		66					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.197A>G	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	A	1.352	-0.591047	0.03799	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000464923;ENST00000465010	T;T;T	0.37584	1.19;1.19;1.19	5.92	-5.48	0.02592	.	1.356310	0.05326	N	0.527425	T	0.23133	0.0559	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31081	-0.9956	10	0.15499	T	0.54	.	15.4861	0.75569	0.8287:0.0:0.1713:0.0	.	66	Q9BYG0	B3GN5_HUMAN	R	66	ENSP00000316173:H66R;ENSP00000420778:H66R;ENSP00000417868:H66R	ENSP00000316173:H66R	H	+	2	0	B3GNT5	184470477	0.389000	0.25205	0.007000	0.13788	0.552000	0.35366	0.488000	0.22371	-0.881000	0.03992	0.533000	0.62120	CAC		0.408	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		54	140	0	0	0	1	0	54	140				
ST8SIA1	6489	broad.mit.edu	37	12	22354654	22354654	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:22354654A>T	ENST00000396037.4	-	5	1384	c.903T>A	c.(901-903)aaT>aaA	p.N301K	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.N158K	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	301					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCATGCATATTCACAGAGA	0.527																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(901-903)aaT>aaA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							72.0	72.0	72.0					12																	22354654		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354654A>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.903T>A	12.37:g.22354654A>T	ENSP00000379353:p.Asn301Lys		Somatic				ST8SIA1_ENST00000539510.1_Missense_Mutation_p.N158K	p.N301K	NM_003034.3	NP_003025.1	WXS	Illumina GAIIx	Phase_I	Q92185	SIA8A_HUMAN			5	1384	-			301					A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.903T>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426985	0.62733	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	T	0.21734	1.99	5.73	-1.21	0.09524	.	0.230654	0.50627	D	0.000107	T	0.18002	0.0432	L	0.46157	1.445	0.37686	D	0.923674	B;B	0.29301	0.241;0.016	B;B	0.27500	0.08;0.027	T	0.20940	-1.0260	10	0.72032	D	0.01	-10.0115	13.475	0.61303	0.21:0.0:0.79:0.0	.	158;301	G3V1U7;Q92185	.;SIA8A_HUMAN	K	301;158	ENSP00000379353:N301K	ENSP00000379353:N301K	N	-	3	2	ST8SIA1	22245921	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	0.722000	0.25925	-0.041000	0.13558	0.533000	0.62120	AAT		0.527	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		34	58	0	0	0	1	0	34	58				
ZNF256	10172	broad.mit.edu	37	19	58452847	58452847	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:58452847T>G	ENST00000282308.3	-	3	1525	c.1329A>C	c.(1327-1329)ttA>ttC	p.L443F	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	443					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TCCTGCTAAATAATTTTCCAC	0.378																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1327-1329)ttA>ttC		zinc finger protein 256							72.0	68.0	69.0					19																	58452847		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452847T>G	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1329A>C	19.37:g.58452847T>G	ENSP00000282308:p.Leu443Phe		Somatic				ZNF256_ENST00000598928.1_3'UTR	p.L443F	NM_005773.2	NP_005764.2	WXS	Illumina GAIIx	Phase_I	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1525	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	443					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.1329A>C	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	11.35	1.611927	0.28712	.	.	ENSG00000152454	ENST00000282308	T	0.15487	2.42	2.84	-2.9	0.05648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	N	0.12637	0.245	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.33523	-0.9865	9	0.54805	T	0.06	.	1.2967	0.02071	0.5261:0.1311:0.1325:0.2102	.	443	Q9Y2P7	ZN256_HUMAN	F	443	ENSP00000282308:L443F	ENSP00000282308:L443F	L	-	3	2	ZNF256	63144659	0.713000	0.27926	0.001000	0.08648	0.978000	0.69477	-0.778000	0.04664	-0.473000	0.06871	0.383000	0.25322	TTA		0.378	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			5	125	0	0	0	1	0	5	125				
KIAA1841	84542	broad.mit.edu	37	2	61335450	61335450	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:61335450A>T	ENST00000402291.1	+	15	1852		c.e15-1		KIAA1841_ENST00000356719.2_Splice_Site|KIAA1841_ENST00000295031.5_Splice_Site|KIAA1841_ENST00000453873.1_Splice_Site	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841											breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCTGTCTTGTAGTTCTTGTCA	0.303																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.e15-1		KIAA1841							107.0	112.0	110.0					2																	61335450		2203	4298	6501	SO:0001630	splice_region_variant	84542							g.chr2:61335450A>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1612-1A>T	2.37:g.61335450A>T			Somatic				KIAA1841_ENST00000356719.2_Splice_Site|KIAA1841_ENST00000295031.5_Splice_Site|KIAA1841_ENST00000453873.1_Splice_Site		NM_001129993.1	NP_001123465.1	WXS	Illumina GAIIx	Phase_I	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		15	1852	+								Q49AF0|Q6ZND0|Q96JI6	Splice_Site	SNP	ENST00000402291.1	37		CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852380	0.71719	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5528	0.68078	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1841	61188954	1.000000	0.71417	0.958000	0.39756	0.765000	0.43378	7.263000	0.78421	2.178000	0.69098	0.459000	0.35465	.		0.303	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	Intron	5	87	0	0	0	1	0	5	87				
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6745-6747)cccfs	p.P2249fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2249	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6742-6747)caccccfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259479_16259480insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6750dupC	1.37:g.16259485_16259485dupC	ENSP00000364912:p.Pro2249fs		Somatic					p.HP2248fs	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6948_6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2248			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6744_6745insC	CCDS164.1																																																																																				0.554	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	435						7	435	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23419318	23419319	+	Frame_Shift_Ins	INS	-	-	G	rs200183824	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:23419318_23419319insG	ENST00000302291.4	-	4	2237_2238	c.1436_1437insC	c.(1435-1437)ccgfs	p.P479fs	LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P479fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	479					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGAGCAGCCGGGGGGTAGCG	0.569																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1435-1437)cgcfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23419318_23419319insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1437dupC	1.37:g.23419324_23419324dupG	ENSP00000303758:p.Pro479fs		Somatic				LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs	p.R479fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2237_2238	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	479					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.1436_1437insC	CCDS30628.1																																																																																				0.569	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		7	701						7	701	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs		Somatic				ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs	p.GG1847fs	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		15	491						15	491	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs		Somatic				PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		21	686						21	686	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|DCDC2B_ENST00000409358.1_5'Flank|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs		Somatic				IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	WXS	Illumina GAIIx	Phase_I	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		14	223						14	223	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs|KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs		Somatic				KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	p.RP114fs	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			15	227						15	227	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35365794	35365799	+	In_Frame_Del	DEL	GCTGCC	GCTGCC	-	rs140339373		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:35365794_35365799delGCTGCC	ENST00000373347.1	-	4	1451_1456	c.1183_1188delGGCAGC	c.(1183-1188)ggcagcdel	p.GS395del	DLGAP3_ENST00000235180.4_In_Frame_Del_p.GS395del			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	395					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTTTGATGTAGCTGCCGCTCCGCATC	0.641																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(1183-1188)del		discs, large (Drosophila) homolog-associated protein 3																																				SO:0001651	inframe_deletion	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365794_35365799delGCTGCC	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1183_1188delGGCAGC	1.37:g.35365794_35365799delGCTGCC	ENSP00000362444:p.Gly395_Ser396del		Somatic				DLGAP3_ENST00000235180.4_In_Frame_Del_p.GS395del	p.GS395del			WXS	Illumina GAIIx	Phase_I	O95886	DLGP3_HUMAN			4	1451_1456	-		Myeloproliferative disorder(586;0.0393)	395					Q5TDD5|Q9H3X7	In_Frame_Del	DEL	ENST00000373347.1	37	c.1183_1188delGGCAGC	CCDS30670.1																																																																																				0.641	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		103	328						103	328	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392|rs371531691		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:42050006_42050007insG	ENST00000372583.1	-	4	1347_1348	c.462_463insC	c.(460-465)cccgagfs	p.E155fs	HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.E155fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(460-465)ccaggafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050006_42050007insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.463dupC	1.37:g.42050012_42050012dupG	ENSP00000361664:p.Glu155fs		Somatic				HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs	p.G155fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1476_1477	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	155					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.462_463insC	CCDS463.1																																																																																				0.604	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		10	524						10	524	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050213	42050214	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:42050213_42050214insG	ENST00000372583.1	-	4	1140_1141	c.255_256insC	c.(253-258)cccatcfs	p.I86fs	HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.I86fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.I86fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.I86fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	86					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATGCTTCGATGGGGGGCCTTT	0.609																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(253-258)cctcgafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050213_42050214insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.256dupC	1.37:g.42050219_42050219dupG	ENSP00000361664:p.Ile86fs		Somatic				HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.R86fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.R86fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.R86fs	p.R86fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1269_1270	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	86					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.255_256insC	CCDS463.1																																																																																				0.609	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	592						7	592	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44877877	44877887	+	Frame_Shift_Del	DEL	TGATGCTTCCA	TGATGCTTCCA	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:44877877_44877887delTGATGCTTCCA	ENST00000355387.2	+	2	558_568	c.108_118delTGATGCTTCCA	c.(106-120)cgtgatgcttccatcfs	p.DASI37fs	RNF220_ENST00000361799.2_Frame_Shift_Del_p.DASI37fs|RNF220_ENST00000372247.2_Frame_Shift_Del_p.DASI37fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	37					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AGGCCAGCCGTGATGCTTCCATCCCTTGTCA	0.545																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(106-120)cgtcfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44877877_44877887delTGATGCTTCCA	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.108_118delTGATGCTTCCA	1.37:g.44877877_44877887delTGATGCTTCCA	ENSP00000347548:p.Asp37fs		Somatic				RNF220_ENST00000361799.2_Frame_Shift_Del_p.RDASI36fs|RNF220_ENST00000372247.2_Frame_Shift_Del_p.RDASI36fs	p.RDASI36fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	558_568	+			36					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Del	DEL	ENST00000355387.2	37	c.108_118delTGATGCTTCCA	CCDS510.1																																																																																				0.545	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		27	524						27	524	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs		Somatic				RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs	p.S88fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		7	1450						7	1450	---	---	---	---
ELAVL4	1996	broad.mit.edu	37	1	50666498	50666499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:50666498_50666499insC	ENST00000371823.4	+	7	1015_1016	c.791_792insC	c.(790-795)gtccccfs	p.VP264fs	ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.VP269fs|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371827.1_Intron	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	264					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTGGACCAGTCCCCCCTTCTG	0.53																																						ENST00000371821.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(805-807)gccfs		ELAV like neuron-specific RNA binding protein 4																																				SO:0001589	frameshift_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666498_50666499insC	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.797dupC	1.37:g.50666504_50666504dupC	ENSP00000360888:p.Val264fs		Somatic				ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000448907.2_Intron	p.A269fs			WXS	Illumina GAIIx	Phase_I	P26378	ELAV4_HUMAN			7	1121_1122	+			264					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Frame_Shift_Ins	INS	ENST00000371823.4	37	c.806_807insC	CCDS553.1																																																																																				0.530	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		9	581						9	581	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		26	476						26	476	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs		Somatic				FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	p.VG137fs	NM_001113411.1	NP_001106882.1	WXS	Illumina GAIIx	Phase_I	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		17	356						17	356	---	---	---	---
ALG6	29929	broad.mit.edu	37	1	63902501	63902506	+	In_Frame_Del	DEL	TCTCAG	TCTCAG	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:63902501_63902506delTCTCAG	ENST00000371108.4	+	15	1639_1644	c.1334_1339delTCTCAG	c.(1333-1341)atctcagtc>atc	p.SV446del	ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_In_Frame_Del_p.SV448del	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	446					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTTTCTTATCTCAGTCATCACTAT	0.369																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1333-1341)atc>a		ALG6, alpha-1,3-glucosyltransferase																																				SO:0001651	inframe_deletion	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63902501_63902506delTCTCAG	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1334_1339delTCTCAG	1.37:g.63902501_63902506delTCTCAG	ENSP00000360149:p.Ser446_Val447del		Somatic				ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_In_Frame_Del_p.ISV447del	p.ISV445del	NM_013339.3	NP_037471.2	WXS	Illumina GAIIx	Phase_I	Q9Y672	ALG6_HUMAN			15	1639_1644	+			445					B3KMU2|Q5SXR9|Q9H3I0	In_Frame_Del	DEL	ENST00000371108.4	37	c.1334_1339delTCTCAG	CCDS30735.1																																																																																				0.369	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		82	294						82	294	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)accfs	p.T1233fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.T1182fs			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554																																						ENST00000371073.2																			1	Insertion - Frameshift(1)	p.Q1185fs*23(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3697-3699)cccfs		cache domain containing 1																																				SO:0001589	frameshift_variant	57685				calcium ion transport	integral to membrane		g.chr1:65157116_65157117insC	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3704dupC	1.37:g.65157123_65157123dupC	ENSP00000360113:p.Thr1233fs		Somatic				CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs	p.P1233fs			WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			27	3697_3698	+			1233					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Frame_Shift_Ins	INS	ENST00000371073.2	37	c.3697_3698insC																																																																																					0.554	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		8	235						8	235	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs		Somatic					p.G170fs	NM_173567.4	NP_775838.3	WXS	Illumina GAIIx	Phase_I	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		9	454						9	454	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		37	609						37	609	---	---	---	---
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)gcafs	p.A187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.A172fs	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(559-561)acgfs		family with sequence similarity 212, member B																																				SO:0001589	frameshift_variant	55924							g.chr1:112269924_112269925insC	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.560dupG	1.37:g.112269931_112269931dupC	ENSP00000349805:p.Ala187fs		Somatic				FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	p.T187fs	NM_019099.4	NP_061972.1	WXS	Illumina GAIIx	Phase_I	Q9NTI7	CA183_HUMAN			2	740_741	-			187					B3KP38|B4DF94|Q9NTI6	Frame_Shift_Ins	INS	ENST00000357260.5	37	c.559_560insG	CCDS841.1																																																																																				0.579	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		9	302						9	302	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs		Somatic				ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	p.DP542fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		11	350						11	350	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		21	798						21	798	---	---	---	---
CIART	148523	broad.mit.edu	37	1	150259011	150259012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:150259011_150259012insC	ENST00000290363.5	+	5	1252_1253	c.803_804insC	c.(802-807)aaccccfs	p.NP268fs	C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.NP180fs|C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.NP268fs	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		268					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTGCAACCCCCCTCTCA	0.52																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(802-804)accfs		chromosome 1 open reading frame 51																																				SO:0001589	frameshift_variant	148523							g.chr1:150259011_150259012insC																												ENST00000290363.5:c.809dupC	1.37:g.150259017_150259017dupC	ENSP00000290363:p.Asn268fs		Somatic				C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs|C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs	p.T268fs	NM_144697.2	NP_653298.1	WXS	Illumina GAIIx	Phase_I	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1252_1253	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		268					B2RD43|D3DV01|Q8N795|Q96MG6	Frame_Shift_Ins	INS	ENST00000290363.5	37	c.803_804insC	CCDS949.1																																																																																				0.520	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			10	763						10	763	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285219	152285221	+	In_Frame_Del	DEL	GGA	GGA	-	rs534493450|rs554865451	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:152285219_152285221delGGA	ENST00000368799.1	-	3	2176_2178	c.2141_2143delTCC	c.(2140-2145)ctccag>cag	p.L714del	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	714	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q715E(2)|p.L714L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGACTGGAGCTGGTGGCG	0.571									Ichthyosis																													ENST00000368799.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.Q715E(2)|p.L714L(1)	urinary_tract(3)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2140-2145)cag>c		filaggrin																																				SO:0001651	inframe_deletion	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285219_152285221delGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2141_2143delTCC	1.37:g.152285219_152285221delGGA	ENSP00000357789:p.Leu714del		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.LQ714del	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2176_2178	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		714			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Del	DEL	ENST00000368799.1	37	c.2141_2143delTCC	CCDS30860.1																																																																																				0.571	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	1267						7	1267	---	---	---	---
LCE2A	353139	broad.mit.edu	37	1	152671424	152671425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:152671424_152671425insC	ENST00000368779.1	+	2	98_99	c.47_48insC	c.(46-51)tgccccfs	p.CP16fs		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	16	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCAAGTGCCCCCCAAAAT	0.574																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(46-48)tccfs		late cornified envelope 2A																																				SO:0001589	frameshift_variant	353139				keratinization			g.chr1:152671424_152671425insC		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.53dupC	1.37:g.152671430_152671430dupC	ENSP00000357768:p.Cys16fs		Somatic					p.S16fs	NM_178428.3	NP_848515.1	WXS	Illumina GAIIx	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	98_99	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		16			Cys-rich.		A4QMZ9	Frame_Shift_Ins	INS	ENST00000368779.1	37	c.47_48insC	CCDS1021.1																																																																																				0.574	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		8	155						8	155	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:153317810_153317811insC	ENST00000359650.5	-	4	251_252	c.187_188insG	c.(187-189)gcafs	p.A63fs	PGLYRP4_ENST00000368739.3_Frame_Shift_Ins_p.A59fs|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(175-177)agafs		peptidoglycan recognition protein 4																																				SO:0001589	frameshift_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317810_153317811insC	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.188dupG	1.37:g.153317816_153317816dupC	ENSP00000352672:p.Ala63fs		Somatic				PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs	p.R59fs			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	533_534	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		63					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Frame_Shift_Ins	INS	ENST00000359650.5	37	c.175_176insG	CCDS30871.1																																																																																				0.589	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		9	947						9	947	---	---	---	---
CREB3L4	148327	broad.mit.edu	37	1	153941096	153941097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:153941096_153941097insC	ENST00000368607.3	+	2	361_362	c.95_96insC	c.(94-99)tgccccfs	p.CP32fs	CREB3L4_ENST00000405694.3_5'UTR|SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.CP32fs|RP11-422P24.10_ENST00000608147.1_RNA	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	32					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGACTCCACTGCCCCCCTCCAG	0.614																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(94-96)tccfs		cAMP responsive element binding protein 3-like 4																																				SO:0001589	frameshift_variant	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941096_153941097insC	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.101dupC	1.37:g.153941102_153941102dupC	ENSP00000357596:p.Cys32fs		Somatic				CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.S32fs	p.S32fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	WXS	Illumina GAIIx	Phase_I	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	361_362	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		32					D3DV62|Q5T4L0|Q86YW6	Frame_Shift_Ins	INS	ENST00000368607.3	37	c.95_96insC	CCDS1056.1																																																																																				0.614	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		7	208						7	208	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154227676	154227677	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:154227676_154227677insC	ENST00000361546.2	+	16	2000_2001	c.1958_1959insC	c.(1957-1962)atccccfs	p.IP653fs	UBAP2L_ENST00000343815.6_Frame_Shift_Ins_p.IP653fs|UBAP2L_ENST00000428931.1_Frame_Shift_Ins_p.IP653fs|AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Frame_Shift_Ins_p.IP664fs			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	653					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTTCTAGCATCCCCCCTCTCA	0.455																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(1957-1959)accfs		ubiquitin associated protein 2-like																																				SO:0001589	frameshift_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154227676_154227677insC	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1964dupC	1.37:g.154227682_154227682dupC	ENSP00000355343:p.Ile653fs		Somatic				UBAP2L_ENST00000343815.6_Frame_Shift_Ins_p.T653fs|UBAP2L_ENST00000361546.2_Frame_Shift_Ins_p.T653fs|UBAP2L_ENST00000271877.7_Frame_Shift_Ins_p.T664fs	p.T653fs	NM_014847.3	NP_055662.3	WXS	Illumina GAIIx	Phase_I	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		17	2125_2126	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		653					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Frame_Shift_Ins	INS	ENST00000361546.2	37	c.1958_1959insC	CCDS1063.1																																																																																				0.455	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		7	350						7	350	---	---	---	---
UBE2Q1	55585	broad.mit.edu	37	1	154523415	154523416	+	Splice_Site	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:154523415_154523416insT	ENST00000292211.4	-	12	1314_1315	c.1235_1236insA	c.(1234-1236)aac>aaAc	p.N412fs	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	412					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.N412fs*>12(1)|p.G413fs*>11(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCCTCACCGTTTTTTTCGTG	0.52																																						ENST00000292211.4																			2	Insertion - Frameshift(2)	p.N412fs*>12(1)|p.G413fs*>11(1)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.e12+1		ubiquitin-conjugating enzyme E2Q family member 1																																				SO:0001630	splice_region_variant	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154523415_154523416insT	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1237+1->A	1.37:g.154523422_154523422dupT			Somatic					p.R412_splice	NM_017582.6	NP_060052.3	WXS	Illumina GAIIx	Phase_I	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1314_1315	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		412					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Splice_Site	INS	ENST00000292211.4	37	c.1237_splice	CCDS1069.1																																																																																				0.520	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582	Frame_Shift_Ins	8	1146						8	1146	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(124-126)aacfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491185_155491186insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.126dupA	1.37:g.155491192_155491192dupT	ENSP00000357330:p.Asn42fs		Somatic				ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs	p.N42fs			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	764_765	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		42					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.125_126insA																																																																																					0.431	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	1557						8	1557	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C	rs548707549		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:158058202_158058203insC	ENST00000359209.6	+	8	1069_1070	c.1002_1003insC	c.(1003-1005)cccfs	p.P335fs	KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.P335fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.P235fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.P232fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.P171fs|KIRREL_ENST00000368172.1_Frame_Shift_Ins_p.P133fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	335	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(394-399)aaccccfs		kin of IRRE like (Drosophila)																																				SO:0001589	frameshift_variant	55243					integral to membrane		g.chr1:158058202_158058203insC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1009dupC	1.37:g.158058209_158058209dupC	ENSP00000352138:p.Pro335fs		Somatic				KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs	p.NP132fs			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			4	408_409	+	all_hematologic(112;0.0378)		334			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Ins	INS	ENST00000359209.6	37	c.396_397insC	CCDS1172.2																																																																																				0.455	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		9	384						9	384	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)accfs	p.T282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.46																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(844-846)cccfs		olfactory receptor, family 10, subfamily Z, member 1																																				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577072_158577073insC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.850dupC	1.37:g.158577078_158577078dupC	ENSP00000354707:p.Thr282fs		Somatic					p.P282fs	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			1	844_845	+	all_hematologic(112;0.0378)		282					Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	c.844_845insC	CCDS30901.1																																																																																				0.460	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		8	1208						8	1208	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(286-288)gggfs	p.G96fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.G96fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	96					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(283-288)ttggggfs		ATPase, Na+/K+ transporting, alpha 2 polypeptide																																				SO:0001589	frameshift_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093110_160093111insG	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.291dupG	1.37:g.160093116_160093116dupG	ENSP00000354490:p.Gly96fs		Somatic				ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs	p.LG95fs	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	374_375	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		95					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Frame_Shift_Ins	INS	ENST00000361216.3	37	c.285_286insG	CCDS1196.1																																																																																				0.604	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		7	720						7	720	---	---	---	---
NHLH1	4807	broad.mit.edu	37	1	160340836	160340837	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:160340836_160340837insC	ENST00000302101.5	+	2	761_762	c.315_316insC	c.(316-318)cccfs	p.P106fs		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	106	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCCTACGCTGCCCCCCGACAA	0.614																																						ENST00000302101.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(313-318)ctccccfs		nescient helix loop helix 1																																				SO:0001589	frameshift_variant	4807				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:160340836_160340837insC	BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"""Basic helix-loop-helix proteins"""	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.321dupC	1.37:g.160340842_160340842dupC	ENSP00000302189:p.Pro106fs		Somatic					p.LP105fs	NM_005598.3	NP_005589.1	WXS	Illumina GAIIx	Phase_I	Q02575	HEN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	761_762	+	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		105			Helix-loop-helix motif.			Frame_Shift_Ins	INS	ENST00000302101.5	37	c.315_316insC	CCDS1204.1																																																																																				0.614	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080676.1	NM_005598		7	157						7	157	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-165)ttccccfs	p.FP54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(160-162)tccfs		RCSD domain containing 1																																				SO:0001589	frameshift_variant	92241							g.chr1:167654710_167654711insC	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.168dupC	1.37:g.167654717_167654717dupC	ENSP00000356828:p.Phe54fs		Somatic				RCSD1_ENST00000537350.1_Intron	p.S54fs	NM_052862.3	NP_443094.3	WXS	Illumina GAIIx	Phase_I	Q6JBY9	CPZIP_HUMAN			3	492_493	+	all_hematologic(923;0.215)		54					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Frame_Shift_Ins	INS	ENST00000367854.3	37	c.161_162insC	CCDS1263.1																																																																																				0.554	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		7	218						7	218	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2983-2985)cccfs	p.P995fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2980-2985)acccccfs		tenascin N																																				SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175096158_175096159insC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2988dupC	1.37:g.175096164_175096164dupC	ENSP00000239462:p.Pro995fs		Somatic					p.TP994fs	NM_022093.1	NP_071376.1	WXS	Illumina GAIIx	Phase_I	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	13	3095_3096	+		Breast(1374;0.000962)	994			Fibronectin type-III 9.		B9EGP3|Q5R360	Frame_Shift_Ins	INS	ENST00000239462.4	37	c.2982_2983insC	CCDS30943.1																																																																																				0.505	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		9	560						9	560	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5052)atccccfs	p.IP1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.47																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)accfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762723_176762724insC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5055dupC	1.37:g.176762730_176762730dupC	ENSP00000356634:p.Ile1683fs		Somatic					p.T1683fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			20	6212_6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.5048_5049insC	CCDS41438.1																																																																																				0.470	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			25	726						25	726	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)ggafs	p.G787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2359-2361)gttfs		family with sequence similarity 129, member A																																				SO:0001589	frameshift_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764537_184764538insC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2361dupG	1.37:g.184764543_184764543dupC	ENSP00000356481:p.Gly787fs		Somatic				FAM129A_ENST00000487074.1_5'UTR	p.V787fs	NM_052966.2	NP_443198.1	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			14	2553_2554	-			787			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Ins	INS	ENST00000367511.3	37	c.2360_2361insG	CCDS1364.1																																																																																				0.668	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			12	626						12	626	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs		Somatic				CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		13	488						13	488	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|MIR1231_ENST00000408101.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs		Somatic				NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs	p.DP1501fs	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			23	4923_4924	+			1501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4503_4504insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		12	391						12	391	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs		Somatic				CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		12	458						12	458	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1652983	1652984	+	Frame_Shift_Ins	INS	-	-	G	rs558163499		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:1652983_1652984insG	ENST00000252804.4	-	17	2618_2619	c.2568_2569insC	c.(2566-2571)ccctgcfs	p.C857fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	857					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.C857fs*5(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACAGAGAAGCAGGGGGGGTCGT	0.663																																						ENST00000252804.4																			2	Deletion - Frameshift(2)	p.C857fs*5(2)	large_intestine(2)	breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2566-2571)ccgcttfs		peroxidasin homolog (Drosophila)																																				SO:0001589	frameshift_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652983_1652984insG	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2569dupC	2.37:g.1652990_1652990dupG	ENSP00000252804:p.Cys857fs		Somatic					p.L857fs	NM_012293.1	NP_036425.1	WXS	Illumina GAIIx	Phase_I	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2618_2619	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	857					A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Ins	INS	ENST00000252804.4	37	c.2568_2569insC	CCDS46221.1																																																																																				0.663	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		9	111						9	111	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11738052	11738053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:11738052_11738053insC	ENST00000381486.2	+	14	2400_2401	c.2100_2101insC	c.(2101-2103)cccfs	p.P701fs	GREB1_ENST00000234142.5_Frame_Shift_Ins_p.P701fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	701						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATTTGCATTCCCCCCTCAGA	0.52																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2098-2103)atccccfs		growth regulation by estrogen in breast cancer 1																																				SO:0001589	frameshift_variant	9687					integral to membrane		g.chr2:11738052_11738053insC		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2106dupC	2.37:g.11738058_11738058dupC	ENSP00000370896:p.Pro701fs		Somatic				GREB1_ENST00000234142.5_Frame_Shift_Ins_p.IP700fs	p.IP700fs	NM_014668.3	NP_055483.2	WXS	Illumina GAIIx	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	14	2400_2401	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		700					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Frame_Shift_Ins	INS	ENST00000381486.2	37	c.2100_2101insC	CCDS42655.1																																																																																				0.520	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		10	982						10	982	---	---	---	---
TRIB2	28951	broad.mit.edu	37	2	12863619	12863620	+	Frame_Shift_Ins	INS	-	-	G	rs542940298		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:12863619_12863620insG	ENST00000405331.3	+	2	574_575	c.504_505insG	c.(505-507)gggfs	p.G169fs	TRIB2_ENST00000155926.4_Frame_Shift_Ins_p.G169fs|TRIB2_ENST00000381465.2_Frame_Shift_Ins_p.G33fs					tribbles pseudokinase 2									p.D168D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGCCATGACGGGGGGCTGGT	0.579																																						ENST00000155926.4																			1	Substitution - coding silent(1)	p.D168D(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(502-507)gaggggfs		tribbles pseudokinase 2																																				SO:0001589	frameshift_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863619_12863620insG	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.510dupG	2.37:g.12863625_12863625dupG	ENSP00000384260:p.Gly169fs		Somatic				TRIB2_ENST00000405331.3_Frame_Shift_Ins_p.EG168fs|TRIB2_ENST00000381465.2_Frame_Shift_Ins_p.EG32fs	p.EG168fs	NM_021643.3	NP_067675.1	WXS	Illumina GAIIx	Phase_I	Q92519	TRIB2_HUMAN			2	1923_1924	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		168			Protein kinase.			Frame_Shift_Ins	INS	ENST00000405331.3	37	c.504_505insG																																																																																					0.579	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		9	283						9	283	---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17699325	17699326	+	Frame_Shift_Ins	INS	-	-	G	rs371446422		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:17699325_17699326insG	ENST00000399080.2	-	1	380_381	c.357_358insC	c.(355-360)ccctcafs	p.S120fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	120										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGACTTTGTGAGGGGGGAGACT	0.48																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(355-360)cccacafs		RAD51 associated protein 2																																				SO:0001589	frameshift_variant	729475							g.chr2:17699325_17699326insG	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.358dupC	2.37:g.17699331_17699331dupG	ENSP00000382030:p.Ser120fs		Somatic					p.T120fs	NM_001099218.2	NP_001092688.1	WXS	Illumina GAIIx	Phase_I	Q09MP3	R51A2_HUMAN			1	380_381	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		120						Frame_Shift_Ins	INS	ENST00000399080.2	37	c.357_358insC	CCDS42656.1																																																																																				0.480	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		8	229						8	229	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-588)gaccccfs	p.DP195fs	NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.DP195fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.DP195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(583-585)gccfs		nuclear receptor binding protein 1																																				SO:0001589	frameshift_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27658017_27658018insC	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.591dupC	2.37:g.27658024_27658024dupC	ENSP00000233557:p.Asp195fs		Somatic				NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs	p.A195fs			WXS	Illumina GAIIx	Phase_I	Q9UHY1	NRBP_HUMAN			8	1416_1417	+	Acute lymphoblastic leukemia(172;0.155)		195			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Frame_Shift_Ins	INS	ENST00000233557.3	37	c.584_585insC	CCDS1753.1																																																																																				0.589	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		10	337						10	337	---	---	---	---
AC009229.5	0	broad.mit.edu	37	2	38456196	38456196	+	lincRNA	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:38456196delA	ENST00000450854.1	-	0	533																											tacccaacttaaaaaaaaaaa	0.408																																						ENST00000450854.1																			0																																																			0							g.chr2:38456196delA																													2.37:g.38456196delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	533	-									RNA	DEL	ENST00000450854.1	37																																																																																						0.408	AC009229.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000325655.2			3	4						3	4	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:40366704_40366705insG	ENST00000403092.1	-	10	2414_2415	c.2381_2382insC	c.(2380-2382)cctfs	p.P794fs	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000406785.2_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.P789fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.P786fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.P794fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2272-2274)cacfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)																																			SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366704_40366705insG		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2382dupC	2.37:g.40366710_40366710dupG	ENSP00000384763:p.Pro794fs		Somatic				SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA	p.H758fs			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			7	2462_2463	-			794					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Ins	INS	ENST00000403092.1	37	c.2273_2274insC	CCDS1806.1																																																																																				0.515	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		9	627						9	627	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1798-1800)cccfs	p.P600fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	600					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1795-1800)tcccccfs		poly(A) polymerase gamma																																				SO:0001589	frameshift_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61021134_61021135insC	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1803dupC	2.37:g.61021140_61021140dupC	ENSP00000238714:p.Pro600fs		Somatic					p.SP599fs	NM_022894.3	NP_075045.2	WXS	Illumina GAIIx	Phase_I	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		19	2046_2047	+	all_hematologic(2;0.0797)		599					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Frame_Shift_Ins	INS	ENST00000238714.3	37	c.1797_1798insC	CCDS1863.1																																																																																				0.401	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		7	402						7	402	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73303155	73303156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:73303155_73303156insG	ENST00000258098.6	-	4	1963_1964	c.1723_1724insC	c.(1723-1725)cagfs	p.Q575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGGCCAGCCTGGGGGGCCTGG	0.599																																						ENST00000258098.6																			1	Deletion - Frameshift(1)	p.Q575fs*11(1)	lung(1)	biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1723-1725)ggcfs		RAB11 family interacting protein 5 (class I)																																				SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303155_73303156insG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1724dupC	2.37:g.73303161_73303161dupG	ENSP00000258098:p.Gln575fs		Somatic				RAB11FIP5_ENST00000493523.2_5'UTR	p.G575fs	NM_015470.2	NP_056285.1	WXS	Illumina GAIIx	Phase_I	Q9BXF6	RFIP5_HUMAN			4	1963_1964	-			575					O94939|Q9P0M1	Frame_Shift_Ins	INS	ENST00000258098.6	37	c.1723_1724insC	CCDS1923.1																																																																																				0.599	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		7	1365						7	1365	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs		Somatic				DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs	p.Q919fs	NM_004082.4	NP_004073.2	WXS	Illumina GAIIx	Phase_I	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		10	1032						10	1032	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)gccfs	p.A398fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.A398fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.A398fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.A295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.A398fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	398	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTTCCTACTGCCCCCCTCTAC	0.505																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1192-1194)cccfs		ubiquitin specific peptidase 39																																				SO:0001589	frameshift_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85866422_85866423insC	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1198dupC	2.37:g.85866428_85866428dupC	ENSP00000312981:p.Ala398fs		Somatic				USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs	p.P398fs	NM_006590.3	NP_006581.2	WXS	Illumina GAIIx	Phase_I	Q53GS9	SNUT2_HUMAN			9	1202_1203	+			398					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Frame_Shift_Ins	INS	ENST00000323701.6	37	c.1192_1193insC	CCDS33234.1																																																																																				0.505	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		15	549						15	549	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97365230	97365231	+	RNA	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:97365230_97365231insG	ENST00000457909.1	+	0	4113							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGGTGAGGGAGGGGGGCACAG	0.579																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)																																						90342					integral to membrane		g.chr2:97365230_97365231insG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365236_97365236dupG			Somatic								WXS	Illumina GAIIx	Phase_I	A0AVI2	FR1L5_HUMAN			0	4113	+								Q17RH2|Q6ZU24	RNA	INS	ENST00000457909.1	37																																																																																						0.579	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		8	370						8	370	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(721-723)cccfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs		Somatic				IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs	p.P241fs	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			6	950_951	+			241			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		9	758						9	758	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:128774049_128774050insG	ENST00000259235.3	-	4	627_628	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.K141fs|SAP130_ENST00000357702.5_Frame_Shift_Ins_p.K167fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.53																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(496-501)ccaggtfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128774049_128774050insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.499dupC	2.37:g.128774055_128774055dupG	ENSP00000259235:p.Lys167fs		Somatic				SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	p.G167fs	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	4	629_630	-	Colorectal(110;0.1)		167			Pro-rich.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.498_499insC	CCDS2153.1																																																																																				0.530	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		9	314						9	314	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152422253	152422254	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:152422253_152422254insA	ENST00000172853.10	-	87	13281_13282	c.13134_13135insT	c.(13132-13137)actaagfs	p.K4379fs	NEB_ENST00000604864.1_Frame_Shift_Ins_p.K6080fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.K4379fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.K6080fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.K6080fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.K6080fs			P20929	NEBU_HUMAN	nebulin	4379					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCTGGTTCTTAGTAACCCTTA	0.505																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18235-18240)acagaafs		nebulin																																				SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152422253_152422254insA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13135dupT	2.37:g.152422254_152422254dupA	ENSP00000172853:p.Lys4379fs		Somatic				NEB_ENST00000409198.1_Frame_Shift_Ins_p.E4379fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.E4379fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.E6080fs	p.E6080fs	NM_001164508.1	NP_001157980.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	115	18439_18440	-			6074					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.18237_18238insT																																																																																					0.505	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		16	59						16	59	---	---	---	---
MARCH7	64844	broad.mit.edu	37	2	160605264	160605265	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:160605264_160605265insC	ENST00000259050.4	+	5	1585_1586	c.1463_1464insC	c.(1462-1467)gtccctfs	p.VP488fs	MARCH7_ENST00000539065.1_Frame_Shift_Ins_p.VP432fs|MARCH7_ENST00000409591.1_Frame_Shift_Ins_p.VP450fs|MARCH7_ENST00000409175.1_Frame_Shift_Ins_p.VP488fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	488					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CGGTTTGCAGTCCCTCCAGCAC	0.436																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1462-1464)gccfs		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	64844						ligase activity|zinc ion binding	g.chr2:160605264_160605265insC	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1466dupC	2.37:g.160605267_160605267dupC	ENSP00000259050:p.Val488fs		Somatic				MARCH7_ENST00000409591.1_Frame_Shift_Ins_p.A450fs|MARCH7_ENST00000409175.1_Frame_Shift_Ins_p.A488fs|MARCH7_ENST00000539065.1_Frame_Shift_Ins_p.A432fs	p.A488fs	NM_022826.2	NP_073737.1	WXS	Illumina GAIIx	Phase_I	Q9H992	MARH7_HUMAN			5	1585_1586	+			488					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Ins	INS	ENST00000259050.4	37	c.1463_1464insC	CCDS2210.1																																																																																				0.436	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		7	520						7	520	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)gcafs	p.A749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTTTACTTGCCCCCCGAAAG	0.485																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Insertion - Frameshift(1)	p.A749fs*3(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2245-2247)aagfs		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)																																			SO:0001589	frameshift_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256860_163256861insC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2246dupG	2.37:g.163256866_163256866dupC	ENSP00000331727:p.Ala749fs		Somatic					p.K749fs	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			10	2344_2345	-			749					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	c.2245_2246insG	CCDS2219.1																																																																																				0.485	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		12	403						12	403	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs		Somatic				MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR	p.NP417fs			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	407						8	407	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs		Somatic				CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	WXS	Illumina GAIIx	Phase_I	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		19	417						19	417	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs		Somatic				ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA	p.G559fs	NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		8	793						8	793	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:203621968_203621969insC	ENST00000392238.2	+	6	1137_1138	c.1137_1138insC	c.(1138-1140)cccfs	p.P380fs	FAM117B_ENST00000303116.6_Frame_Shift_Ins_p.P136fs			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	380										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(403-408)ccccccfs		family with sequence similarity 117, member B																																				SO:0001589	frameshift_variant	150864							g.chr2:203621968_203621969insC	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1144dupC	2.37:g.203621975_203621975dupC	ENSP00000376071:p.Pro380fs		Somatic				FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	p.PP135fs	NM_173511.3	NP_775782.2	WXS	Illumina GAIIx	Phase_I	Q6P1L5	F117B_HUMAN			6	1147_1148	+			379					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Frame_Shift_Ins	INS	ENST00000392238.2	37	c.405_406insC	CCDS33362.2																																																																																				0.485	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		9	161						9	161	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			2	Insertion - Frameshift(2)	p.K781fs*3(2)	ovary(2)	NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(2332-2334)cccfs		ADAM metallopeptidase domain 23																																				SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460860_207460861insC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs		Somatic				ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	p.P778fs	NM_003812.2	NP_003803.1	WXS	Illumina GAIIx	Phase_I	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2661_2662	+			778					A2RU59	Frame_Shift_Ins	INS	ENST00000264377.3	37	c.2333_2334insC	CCDS2369.1																																																																																				0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		8	164						8	164	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220168477	220168478	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:220168477_220168478insG	ENST00000295718.2	-	4	596_597	c.356_357insC	c.(355-357)ccafs	p.P119fs	PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.P119fs|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.P29fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	119					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACGGGGCTCTGGGGGGCGAAG	0.55																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(355-357)cgafs		protein tyrosine phosphatase, receptor type, N																																				SO:0001589	frameshift_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220168477_220168478insG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.357dupC	2.37:g.220168483_220168483dupG	ENSP00000295718:p.Pro119fs		Somatic				AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs	p.R119fs	NM_002846.3	NP_002837.1	WXS	Illumina GAIIx	Phase_I	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	4	596_597	-		Renal(207;0.0474)	119					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Frame_Shift_Ins	INS	ENST00000295718.2	37	c.356_357insC	CCDS2440.1																																																																																				0.550	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			8	559						8	559	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220504281	220504282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:220504281_220504282insG	ENST00000358055.3	+	20	3613_3614	c.3101_3102insG	c.(3100-3105)ctggggfs	p.LG1034fs	SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.LG1061fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.LG1034fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.LG1061fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.LG1034fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1034	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTCT	0.644																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3100-3102)cggfs		solute carrier family 4 (anion exchanger), member 3			,	9,4257		0,9,2124					,	4.4	1.0			56	7,8247		0,7,4120	no	frameshift,frameshift	SLC4A3	NM_201574.2,NM_005070.3	,	0,16,6244	A1A1,A1R,RR		0.0848,0.211,0.1278	,	,		16,12504				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504281_220504282insG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3108dupG	2.37:g.220504288_220504288dupG	ENSP00000350756:p.Leu1034fs		Somatic				SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.R1034fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.R1061fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.R1061fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.R1034fs	p.R1034fs			WXS	Illumina GAIIx	Phase_I	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3613_3614	+		Renal(207;0.0183)	1034			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	37	c.3101_3102insG	CCDS2445.1																																																																																				0.644	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		7	156						7	156	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		Somatic				NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		14	204						14	204	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230724115	230724116	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:230724115_230724116insT	ENST00000283943.5	-	3	451_452	c.273_274insA	c.(271-276)aaaccafs	p.P92fs	TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.P134fs|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.P134fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.P134fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	92					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGTGCTTTTGGTTTTTTTGCAG	0.436																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(271-276)aacaaafs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724115_230724116insT	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.274dupA	2.37:g.230724122_230724122dupT	ENSP00000283943:p.Pro92fs		Somatic				TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.NK133fs	p.NK91fs	NM_004238.1	NP_004229.1	WXS	Illumina GAIIx	Phase_I	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	451_452	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	91					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	ENST00000283943.5	37	c.273_274insA	CCDS33391.1																																																																																				0.436	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		8	336						8	336	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs		Somatic				NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	p.P202fs	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		19	480						19	480	---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242179466	242179467	+	Frame_Shift_Ins	INS	-	-	C	rs183637245	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:242179466_242179467insC	ENST00000391975.1	-	18	2467_2468	c.2240_2241insG	c.(2239-2241)ggcfs	p.G747fs	HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.G714fs	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	747	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAATTTTGCCGCCCCCCTTGCC	0.545																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2239-2241)gggfs		high density lipoprotein binding protein																																				SO:0001589	frameshift_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179466_242179467insC		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2241dupG	2.37:g.242179472_242179472dupC	ENSP00000375836:p.Gly747fs		Somatic				HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.G714fs|HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.G747fs	p.G747fs	NM_203346.3	NP_976221.1	WXS	Illumina GAIIx	Phase_I	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2467_2468	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	747			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Frame_Shift_Ins	INS	ENST00000391975.1	37	c.2240_2241insG	CCDS2547.1																																																																																				0.545	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		7	541						7	541	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9974537	9974538	+	Frame_Shift_Ins	INS	-	-	G	rs574709557		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:9974537_9974538insG	ENST00000295981.3	+	18	1948_1949	c.1730_1731insG	c.(1729-1734)tcggggfs	p.SG577fs	CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Intron|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.SG474fs|CRELD1_ENST00000383811.3_5'Flank|RP11-1020A11.1_ENST00000602411.1_RNA|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.SG491fs|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.SG506fs	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	577					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.S577L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGTCCGCTCGGGGGGTGAGT	0.693											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295981.3																			1	Substitution - Missense(1)	p.S577L(1)	urinary_tract(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1729-1731)tggfs		interleukin 17 receptor C																																				SO:0001589	frameshift_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9974537_9974538insG	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1735dupG	3.37:g.9974543_9974543dupG	ENSP00000295981:p.Ser577fs		Somatic	OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	661	IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.W506fs|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.W491fs|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.W474fs	p.W577fs	NM_153461.3	NP_703191.1	WXS	Illumina GAIIx	Phase_I	Q8NAC3	I17RC_HUMAN			18	1948_1949	+			577					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Frame_Shift_Ins	INS	ENST00000295981.3	37	c.1730_1731insG	CCDS2590.1																																																																																				0.693	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		2	4						2	4	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000287647.3_Splice_Site_p.L426fs|FANCD2_ENST00000383807.1_Splice_Site_p.L426fs|FANCD2_ENST00000383806.1_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA			Somatic				FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	9	36						9	36	---	---	---	---
CX3CR1	1524	broad.mit.edu	37	3	39307167	39307167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:39307167delA	ENST00000541347.1	-	2	1073	c.834delT	c.(832-834)actfs	p.T278fs	CX3CR1_ENST00000542107.1_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000399220.2_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000358309.3_Frame_Shift_Del_p.T310fs	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	278					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAACCGTCTCAGTCACACTGA	0.473																																						ENST00000541347.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(832-834)acfs		chemokine (C-X3-C motif) receptor 1							136.0	134.0	135.0					3																	39307167		1954	4162	6116	SO:0001589	frameshift_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307167delA	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.834delT	3.37:g.39307167delA	ENSP00000439140:p.Thr278fs		Somatic				CX3CR1_ENST00000399220.2_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000542107.1_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000358309.3_Frame_Shift_Del_p.T310fs	p.T278fs	NM_001171171.1	NP_001164642.1	WXS	Illumina GAIIx	Phase_I	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	1073	-			278					A0N0N6|B2R5Z4|J3KP17	Frame_Shift_Del	DEL	ENST00000541347.1	37	c.834delT	CCDS43069.1																																																																																				0.473	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		42	345						42	345	---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49051381	49051382	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:49051381_49051382insG	ENST00000608424.1	+	2	2453_2454	c.2414_2415insG	c.(2413-2418)gcggggfs	p.AG805fs	WDR6_ENST00000415265.2_Frame_Shift_Ins_p.AG253fs|WDR6_ENST00000395474.3_Frame_Shift_Ins_p.AG835fs|WDR6_ENST00000448293.1_Frame_Shift_Ins_p.AG754fs			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	805					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTGGTGTCTGCGGGGGGGCGGG	0.639											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2503-2505)gggfs		WD repeat domain 6																																				SO:0001589	frameshift_variant	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051381_49051382insG	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2421dupG	3.37:g.49051388_49051388dupG	ENSP00000477389:p.Ala805fs		Somatic	OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_ENST00000415265.2_Frame_Shift_Ins_p.G253fs|WDR6_ENST00000448293.1_Frame_Shift_Ins_p.G754fs	p.G835fs	NM_018031.3	NP_060501.3	WXS	Illumina GAIIx	Phase_I	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2784_2785	+			805					B4DHK2|Q3MIT1|Q9UF63	Frame_Shift_Ins	INS	ENST00000608424.1	37	c.2504_2505insG																																																																																					0.639	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			10	108						10	108	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs		Somatic				KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	p.LG42fs	NM_153331.3	NP_699162.3	WXS	Illumina GAIIx	Phase_I	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		12	539						12	539	---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G	rs201231166		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:98304318_98304319insG	ENST00000264193.2	-	5	1356_1357	c.1138_1139insC	c.(1138-1140)cagfs	p.Q380fs		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	380					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGCTTCTCCTGGGGGGTGAAT	0.5																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16	GRCh37	CD011866	CPOX	D		c.(1138-1140)ggafs		coproporphyrinogen oxidase																																				SO:0001589	frameshift_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304318_98304319insG	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1139dupC	3.37:g.98304324_98304324dupG	ENSP00000264193:p.Gln380fs		Somatic					p.G380fs	NM_000097.5	NP_000088.3	WXS	Illumina GAIIx	Phase_I	P36551	HEM6_HUMAN			5	1356_1357	-			380					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Frame_Shift_Ins	INS	ENST00000264193.2	37	c.1138_1139insC	CCDS2932.1																																																																																				0.500	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		8	518						8	518	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cccatafs	p.I88fs	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	89	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(259-264)cctaatfs		mucin 13, cell surface associated																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646628_124646629insG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.262dupC	3.37:g.124646634_124646634dupG	ENSP00000312235:p.Ile88fs		Somatic					p.N88fs	NM_033049.3	NP_149038.3	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			2	299_300	-			88			Thr-rich.		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	ENST00000311075.3	37	c.261_262insC																																																																																					0.441	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		8	952						8	952	---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125647339	125647339	+	IGR	DEL	C	C	-	rs200677662		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:125647339delC	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCAGGCCAGGCCAGGA	0.557																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	100125556							g.chr3:125647339delC	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647339delC			Somatic						NR_024251.1		WXS	Illumina GAIIx	Phase_I					0	484	+								D3DNA5	RNA	DEL	ENST00000340333.3	37		CCDS33840.1																																																																																				0.557	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		8	316						8	316	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs		Somatic					p.G493fs	NM_139209.2	NP_631948.1	WXS	Illumina GAIIx	Phase_I	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		7	658						7	658	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)accfs	p.T305fs	HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.T331fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.T320fs|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.T305fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.T290fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CACCAGTGGCACCCCCCTCATC	0.54																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic																																				SO:0001589	frameshift_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823745_183823746insC	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.919dupC	3.37:g.183823751_183823751dupC	ENSP00000401444:p.Thr305fs		Somatic				HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs	p.P305fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	WXS	Illumina GAIIx	Phase_I	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1379_1380	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		305					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Frame_Shift_Ins	INS	ENST00000415389.2	37	c.913_914insC	CCDS58868.1																																																																																				0.540	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		8	642						8	642	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184099144	184099145	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:184099144_184099145insC	ENST00000204604.1	+	3	620_621	c.374_375insC	c.(373-378)tgccccfs	p.CP125fs	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Frame_Shift_Ins_p.CP125fs|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Frame_Shift_Ins_p.CP125fs	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	125	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCAGACCTGCCCCCAGGGTA	0.683																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(373-375)tccfs		chordin																																				SO:0001589	frameshift_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099144_184099145insC	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.379dupC	3.37:g.184099149_184099149dupC	ENSP00000204604:p.Cys125fs		Somatic				EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Frame_Shift_Ins_p.S125fs|CHRD_ENST00000348986.3_Frame_Shift_Ins_p.S125fs	p.S125fs	NM_003741.2	NP_003732.2	WXS	Illumina GAIIx	Phase_I	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	620_621	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		125			VWFC 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Frame_Shift_Ins	INS	ENST00000204604.1	37	c.374_375insC	CCDS3266.1																																																																																				0.683	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		2	4						2	4	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs		Somatic				FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs	p.A228fs	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		12	832						12	832	---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39314450	39314451	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:39314450_39314451insC	ENST00000381897.1	-	11	1437_1438	c.1304_1305insG	c.(1303-1305)ggafs	p.G435fs	RFC1_ENST00000349703.2_Frame_Shift_Ins_p.G435fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	435	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGTTACTTTTCCCCCATAACG	0.426																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1303-1305)gaafs		replication factor C (activator 1) 1, 145kDa																																				SO:0001589	frameshift_variant	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39314450_39314451insC	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1305dupG	4.37:g.39314455_39314455dupC	ENSP00000371321:p.Gly435fs		Somatic				RFC1_ENST00000349703.2_Frame_Shift_Ins_p.E435fs	p.E435fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	WXS	Illumina GAIIx	Phase_I	P35251	RFC1_HUMAN			11	1437_1438	-			435			BRCT.		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Ins	INS	ENST00000381897.1	37	c.1304_1305insG	CCDS56329.1																																																																																				0.426	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		8	1275						8	1275	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs		Somatic				UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		13	630						13	630	---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123859334	123859335	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:123859334_123859335insG	ENST00000274008.4	+	8	1457_1458	c.1388_1389insG	c.(1387-1392)gaggggfs	p.EG463fs	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	463					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGAAAAGAGAGGGGGCCCAGA	0.361																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1387-1389)gggfs		spermatogenesis associated 5																																				SO:0001589	frameshift_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123859334_123859335insG	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1393dupG	4.37:g.123859339_123859339dupG	ENSP00000274008:p.Glu463fs		Somatic				SPATA5_ENST00000422835.2_3'UTR	p.G463fs	NM_145207.2	NP_660208.2	WXS	Illumina GAIIx	Phase_I	Q8NB90	SPAT5_HUMAN			8	1457_1458	+			463					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Frame_Shift_Ins	INS	ENST00000274008.4	37	c.1388_1389insG	CCDS3730.1																																																																																				0.361	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		7	304						7	304	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.45																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)ggcfs		fibrinogen gamma chain	Sucralfate(DB00364)																																			SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526058_155526059insC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1290dupG	4.37:g.155526064_155526064dupC	ENSP00000336829:p.Gly430fs		Somatic				FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	p.G430fs	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			9	1528_1529	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Ins	INS	ENST00000336098.3	37	c.1289_1290insG	CCDS3788.1																																																																																				0.450	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		10	536						10	536	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)cccaaafs	p.K1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3670-3675)ccaatcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187558038_187558039insG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3673dupC	4.37:g.187558044_187558044dupG	ENSP00000406229:p.Lys1225fs	HNSCC(5;0.00058)	Somatic					p.I1225fs	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			5	3881_3882	-			1225			Cadherin 10.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3672_3673insC	CCDS47177.1																																																																																				0.361	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	839						8	839	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9044549	9044550	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:9044549_9044550insG	ENST00000382496.5	-	22	3705_3706	c.3040_3041insC	c.(3040-3042)cttfs	p.L1014fs	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1014					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGGTATTAAGGGGGGCAGGT	0.525																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(3040-3042)taafs		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A																																				SO:0001589	frameshift_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044549_9044550insG	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3041dupC	5.37:g.9044555_9044555dupG	ENSP00000371936:p.Leu1014fs		Somatic				CTD-2215L10.1_ENST00000506519.1_RNA	p.*1014fs	NM_003966.2	NP_003957.2	WXS	Illumina GAIIx	Phase_I	Q13591	SEM5A_HUMAN			22	3705_3706	-			1014					D3DTC6|O60408|Q1RLL9	Frame_Shift_Ins	INS	ENST00000382496.5	37	c.3040_3041insC	CCDS3875.1																																																																																				0.525	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			8	451						8	451	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs		Somatic				CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		17	1037						17	1037	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G	rs540141603	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:38407191_38407192insG	ENST00000354891.3	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)tggfs	p.W364fs	EGFLAM_ENST00000322350.5_Frame_Shift_Ins_p.W364fs|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.W130fs	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			1	Insertion - Frameshift(1)	p.S367fs*12(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1090-1092)gggfs		EGF-like, fibronectin type III and laminin G domains																																				SO:0001589	frameshift_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407191_38407192insG	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1097dupG	5.37:g.38407198_38407198dupG	ENSP00000346964:p.Trp364fs		Somatic				EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs	p.G364fs	NM_152403.3	NP_689616.2	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			8	1436_1437	+	all_lung(31;0.000385)		364			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Frame_Shift_Ins	INS	ENST00000354891.3	37	c.1090_1091insG	CCDS56363.1																																																																																				0.545	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		8	146						8	146	---	---	---	---
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)caafs	p.Q595fs	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Frame_Shift_Ins_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.5																																						ENST00000263413.3																			1	Substitution - Missense(1)	p.Q595K(1)	lung(1)	central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1783-1785)acgfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159256_41159257insG	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1784dupC	5.37:g.41159262_41159262dupG	ENSP00000263413:p.Gln595fs		Somatic				C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	p.T595fs	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			12	2047_2048	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	595			TSP type-1 3.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.1783_1784insC	CCDS3936.1																																																																																				0.500	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	288						7	288	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65370919	65370920	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:65370919_65370920insC	ENST00000284037.5	+	23	4213_4214	c.3824_3825insC	c.(3823-3828)caccccfs	p.HP1275fs	ERBB2IP_ENST00000380939.2_Intron|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.HP473fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.HP1234fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.HP1234fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.HP1282fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.HP1234fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.HP1230fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1275					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAATACATCACCCCCCTCAGG	0.455																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3823-3825)cccfs		erbb2 interacting protein																																				SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65370919_65370920insC		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3830dupC	5.37:g.65370925_65370925dupC	ENSP00000284037:p.His1275fs		Somatic				ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1230fs|ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P473fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380939.2_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1282fs	p.P1275fs	NM_001253697.1	NP_001240626.1	WXS	Illumina GAIIx	Phase_I	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4213_4214	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1275					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Ins	INS	ENST00000284037.5	37	c.3824_3825insC	CCDS58953.1																																																																																				0.455	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		7	285						7	285	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		11	380						11	380	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs		Somatic					p.*294fs	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		12	162						12	162	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggcgtfs	p.R312fs	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.R265fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCCCTGACGCCCCCCGTTTC	0.53																																						ENST00000311106.3																			1	Substitution - Missense(1)	p.R312C(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(931-936)gggtcafs		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746639_95746640insC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.934dupG	5.37:g.95746645_95746645dupC	ENSP00000308024:p.Arg312fs		Somatic				PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs	p.S312fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1170_1171	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	312			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Frame_Shift_Ins	INS	ENST00000311106.3	37	c.933_934insG	CCDS4081.1																																																																																				0.530	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		8	561						8	561	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2635-2640)ccaagtfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A																																				SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782764_115782765insG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs		Somatic				SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs	p.S880fs	NM_020796.3	NP_065847.1	WXS	Illumina GAIIx	Phase_I	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3424_3425	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	880					Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	c.2637_2638insC	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		7	576						7	576	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		13	405						13	405	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4867-4869)cgtfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	1257						7	1257	---	---	---	---
FSTL4	23105	broad.mit.edu	37	5	132545911	132545912	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:132545911_132545912insC	ENST00000265342.7	-	14	1936_1937	c.1687_1688insG	c.(1687-1689)gacfs	p.D563fs	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	563						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGTGCACGTCCCCCCAGCTC	0.495																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1687-1689)cgtfs		follistatin-like 4																																				SO:0001589	frameshift_variant	23105					extracellular region	calcium ion binding	g.chr5:132545911_132545912insC	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1688dupG	5.37:g.132545917_132545917dupC	ENSP00000265342:p.Asp563fs		Somatic				CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	p.R563fs	NM_015082.1	NP_055897.1	WXS	Illumina GAIIx	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	1936_1937	-		all_cancers(142;0.244)	563					Q8TBU0|Q9UPU1	Frame_Shift_Ins	INS	ENST00000265342.7	37	c.1687_1688insG	CCDS34238.1																																																																																				0.495	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		10	682						10	682	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					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)			CCAGCAAGACGCCCCCCCACGA	0.649																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-996)acccccfs		early growth response 1																																				SO:0001589	frameshift_variant	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.chr5:137803131_137803132insC	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.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs		Somatic					p.TP331fs	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1265_1266	+			331						Frame_Shift_Ins	INS	ENST00000239938.4	37	c.993_994insC	CCDS4206.1																																																																																				0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		10	163						10	163	---	---	---	---
EIF4EBP3	8637	broad.mit.edu	37	5	139931628	139931629	+	IGR	INS	-	-	GTC	rs5871740|rs3085220|rs368142622|rs202193903	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:139931628_139931629insGTC	ENST00000310331.2	+	0	691				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_In_Frame_Ins_p.110_110V>GL	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCCATCACAGCCTCAGAC	0.589																																						ENST00000336283.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(328-330)gat>GACgat		steroid receptor RNA activator 1				1098,57,3109		127,26,818,0,31,1130						4.6	1.0		dbSNP_114	70	3373,320,4559		665,172,1871,4,140,1274	no	codingComplex	SRA1	NM_001035235.2		792,198,2689,4,171,2404	A1A1,A1A2,A1R,A2A2,A2R,RR		44.7528,27.0872,38.7344				4471,377,7668				SO:0001628	intergenic_variant	10011				apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity	g.chr5:139931628_139931629insGTC	AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139931628_139931629insGTC			Somatic				SRA1_ENST00000520427.1_5'UTR	p.110_110D>DD	NM_001035235.3	NP_001030312.2	WXS	Illumina GAIIx	Phase_I	Q9HD15	SRA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1149_1150	-			110	V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).					In_Frame_Ins	INS	ENST00000310331.2	37	c.328_329insGAC	CCDS4226.1																																																																																				0.589	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		41	295						41	295	---	---	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865128	140865129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:140865128_140865129insC	ENST00000306593.1	+	1	388_389	c.388_389insC	c.(388-390)gccfs	p.A130fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGATCACGCCCCCCGTTTT	0.574																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(388-390)cccfs																																						SO:0001589	frameshift_variant	56098							g.chr5:140865128_140865129insC	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.394dupC	5.37:g.140865134_140865134dupC	ENSP00000306918:p.Ala130fs		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron	p.P130fs	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	388_389	+								Q495T2|Q9Y5C3	Frame_Shift_Ins	INS	ENST00000306593.1	37	c.388_389insC	CCDS4262.1																																																																																				0.574	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		11	590						11	590	---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140870530	140870531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:140870530_140870531insC	ENST00000252087.1	+	1	1723_1724	c.1723_1724insC	c.(1723-1725)gccfs	p.A575fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	575	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCGT	0.589																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1723-1725)cccfs																																						SO:0001589	frameshift_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140870530_140870531insC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1729dupC	5.37:g.140870536_140870536dupC	ENSP00000252087:p.Ala575fs		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.P575fs	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1723_1724	+			575			Cadherin 6.		Q9Y5C2	Frame_Shift_Ins	INS	ENST00000252087.1	37	c.1723_1724insC	CCDS4263.1																																																																																				0.589	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		7	376						7	376	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)ggtfs	p.G613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.G559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.G567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.G586fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.45																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1837-1839)gaafs		leucyl-tRNA synthetase	L-Leucine(DB00149)																																			SO:0001589	frameshift_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145523013_145523014insC	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1839dupG	5.37:g.145523019_145523019dupC	ENSP00000377954:p.Gly613fs		Somatic				LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs	p.E613fs	NM_020117.9	NP_064502.9	WXS	Illumina GAIIx	Phase_I	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2004_2005	-			613					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Frame_Shift_Ins	INS	ENST00000394434.2	37	c.1838_1839insG	CCDS34265.1																																																																																				0.450	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		11	1259						11	1259	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs		Somatic				PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs	p.E397fs			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	817						8	817	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:149755744_149755745insC	ENST00000504761.2	+	13	1993_1994	c.1993_1994insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1993-1995)cccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755744_149755745insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1999dupC	5.37:g.149755750_149755750dupC	ENSP00000421655:p.Ala665fs		Somatic				TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs	p.P665fs			WXS	Illumina GAIIx	Phase_I	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2101_2102	+		all_hematologic(541;0.224)	665		A -> P (in dbSNP:rs2071240).			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1993_1994insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		8	509						8	509	---	---	---	---
RPL26L1	51121	broad.mit.edu	37	5	172386937	172386938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:172386937_172386938insC	ENST00000521476.1	+	2	185_186	c.61_62insC	c.(61-63)gccfs	p.A21fs	RPL26L1_ENST00000519974.1_Frame_Shift_Ins_p.A21fs|CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.1_ENST00000520067.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA|RPL26L1_ENST00000519239.1_Frame_Shift_Ins_p.A21fs|CTC-308K20.2_ENST00000519755.1_lincRNA|RPL26L1_ENST00000265100.2_Frame_Shift_Ins_p.A21fs			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	21					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTTCAATGCCCCCTCACAC	0.559																																						ENST00000521476.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(61-63)cccfs		ribosomal protein L26-like 1																																				SO:0001589	frameshift_variant	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172386937_172386938insC	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.66dupC	5.37:g.172386942_172386942dupC	ENSP00000428223:p.Ala21fs		Somatic				RPL26L1_ENST00000519239.1_Frame_Shift_Ins_p.P21fs|RPL26L1_ENST00000519974.1_Frame_Shift_Ins_p.P21fs|RPL26L1_ENST00000265100.2_Frame_Shift_Ins_p.P21fs	p.P21fs			WXS	Illumina GAIIx	Phase_I	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	185_186	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	21					B3KY82|D3DQM0	Frame_Shift_Ins	INS	ENST00000521476.1	37	c.61_62insC	CCDS4382.1																																																																																				0.559	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		9	1664						9	1664	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032356	4032357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:4032356_4032357insG	ENST00000337659.6	+	2	705_706	c.605_606insG	c.(604-609)aaggggfs	p.KG202fs	PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.KG188fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	202	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGAAAAGTAAGGGGGGTATTG	0.361																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(604-606)aggfs		pre-mRNA processing factor 4B																																				SO:0001589	frameshift_variant	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032356_4032357insG	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.611dupG	6.37:g.4032362_4032362dupG	ENSP00000337194:p.Lys202fs		Somatic				PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.R188fs	p.R202fs	NM_003913.4	NP_003904.3	WXS	Illumina GAIIx	Phase_I	Q13523	PRP4B_HUMAN			2	705_706	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	202			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Frame_Shift_Ins	INS	ENST00000337659.6	37	c.605_606insG	CCDS4488.1																																																																																				0.361	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			7	214						7	214	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(310-312)cccfs	p.P104fs	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	43					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(307-312)ctccccfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185110_13185111insC	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.315dupC	6.37:g.13185116_13185116dupC	ENSP00000368650:p.Pro104fs		Somatic				PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron	p.LP103fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	550_551	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	237					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379345.2	37	c.309_310insC																																																																																					0.584	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		7	239						7	239	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		Somatic				PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		19	306						19	306	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376888.2_Intron|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		9	293						9	293	---	---	---	---
HCG17	414778	broad.mit.edu	37	6	30230128	30230129	+	lincRNA	INS	-	-	G	rs2523745	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:30230128_30230129insG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		AGGTGAGACATGGGGGGGCCTG	0.51																																						ENST00000453558.1																			0																																																			414778							g.chr6:30230128_30230129insG	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30230135_30230135dupG			Somatic				HLA-L_ENST00000463348.1_RNA				WXS	Illumina GAIIx	Phase_I					0	126	-									RNA	INS	ENST00000453558.1	37																																																																																						0.510	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		8	278						8	278	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)ctgfs	p.L939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2815-2817)gccfs		protein phosphatase 1, regulatory subunit 10																																				SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30569333_30569334insG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2816dupC	6.37:g.30569340_30569340dupG	ENSP00000365694:p.Leu939fs		Somatic					p.A939fs	NM_002714.3	NP_002705.2	WXS	Illumina GAIIx	Phase_I	Q96QC0	PP1RA_HUMAN			20	3367_3368	-			939					O00405	Frame_Shift_Ins	INS	ENST00000376511.2	37	c.2815_2816insC	CCDS4681.1																																																																																				0.569	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		7	285						7	285	---	---	---	---
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:30610713_30610714insC	ENST00000376485.4	+	10	923_924	c.893_894insC	c.(892-897)tgccccfs	p.CP298fs	ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.CP286fs|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000376483.4_Frame_Shift_Ins_p.CP298fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.CP298fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.CP275fs					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658																																						ENST00000376483.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(892-894)tccfs		alpha tubulin acetyltransferase 1																																				SO:0001589	frameshift_variant	79969						tubulin N-acetyltransferase activity	g.chr6:30610713_30610714insC	AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"""alpha-tubulin N-acetyltransferase"""	615556	"""chromosome 6 open reading frame 134"""	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.899dupC	6.37:g.30610719_30610719dupC	ENSP00000365668:p.Cys298fs		Somatic				ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000468713.1_Intron	p.S298fs			WXS	Illumina GAIIx	Phase_I	Q5SQI0	ATAT_HUMAN			10	903_904	+			298						Frame_Shift_Ins	INS	ENST00000376485.4	37	c.893_894insC																																																																																					0.658	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		7	610						7	610	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608162	31608163	+	Splice_Site	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:31608162_31608163insG	ENST00000375964.6	-	22	3360_3361	c.3047_3048insC	c.(3046-3048)cca>ccCa	p.P1016fs	BAG6_ENST00000404765.2_Splice_Site_p.P1046fs|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Splice_Site_p.P1010fs|BAG6_ENST00000362049.6_Splice_Site_p.P1010fs|BAG6_ENST00000211379.5_Splice_Site_p.P1010fs|BAG6_ENST00000470875.1_5'Flank	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1016					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TGACACTTACTGGGGGGACTGC	0.554																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e23+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608162_31608163insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3048+1->C	6.37:g.31608168_31608168dupG			Somatic				BAG6_ENST00000362049.6_Splice_Site_p.R1010_splice|BAG6_ENST00000375964.6_Splice_Site_p.R1016_splice|BAG6_ENST00000211379.5_Splice_Site_p.R1010_splice|BAG6_ENST00000375976.4_Splice_Site_p.R1010_splice|BAG6_ENST00000439687.2_Intron	p.R1046_splice			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			23	3426_3427	-			1016					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.3138_splice	CCDS47403.1																																																																																				0.554	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	8	621						8	621	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			18	485						18	485	---	---	---	---
CLIC1	1192	broad.mit.edu	37	6	31701701	31701702	+	Frame_Shift_Ins	INS	-	-	C	rs1049227		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:31701701_31701702insC	ENST00000375780.2	-	4	758_759	c.186_187insG	c.(184-189)gggcagfs	p.Q63fs	CLIC1_ENST00000395892.1_Frame_Shift_Ins_p.Q63fs|CLIC1_ENST00000375784.3_Frame_Shift_Ins_p.Q63fs|CLIC1_ENST00000375779.2_Frame_Shift_Ins_p.Q63fs			O00299	CLIC1_HUMAN	chloride intracellular channel 1	63	Required for insertion into the membrane.			Q -> E (in Ref. 1; AAC25675 and 3; AAD26137). {ECO:0000305}.	chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						AATGGGAGCTGCCCCCCTGGGC	0.564																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(184-189)ggagctfs		chloride intracellular channel 1																																				SO:0001589	frameshift_variant	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31701701_31701702insC	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.187dupG	6.37:g.31701707_31701707dupC	ENSP00000364935:p.Gln63fs		Somatic				CLIC1_ENST00000395892.1_Frame_Shift_Ins_p.A63fs|CLIC1_ENST00000375779.2_Frame_Shift_Ins_p.A63fs|CLIC1_ENST00000375784.3_Frame_Shift_Ins_p.A63fs	p.A63fs			WXS	Illumina GAIIx	Phase_I	O00299	CLIC1_HUMAN			4	758_759	-			63	Q -> E (in Ref. 1; AAC25675 and 3; AAD26137).		Required for insertion into the membrane.		Q15089|Q502X1	Frame_Shift_Ins	INS	ENST00000375780.2	37	c.186_187insG	CCDS4719.1																																																																																				0.564	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		7	515						7	515	---	---	---	---
SLC39A7	7922	broad.mit.edu	37	6	33171547	33171548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:33171547_33171548insG	ENST00000374677.3	+	7	1740_1741	c.1367_1368insG	c.(1366-1371)ctggggfs	p.LG456fs	SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.LG456fs|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	456				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGGGGCTGCTGGGGGGAGTTA	0.564																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1366-1368)cggfs		solute carrier family 39 (zinc transporter), member 7																																				SO:0001589	frameshift_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33171547_33171548insG	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1373dupG	6.37:g.33171553_33171553dupG	ENSP00000363809:p.Leu456fs		Somatic				SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.R456fs	p.R456fs	NM_006979.2	NP_008910.2	WXS	Illumina GAIIx	Phase_I	Q92504	S39A7_HUMAN			7	1740_1741	+			456	CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).				B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Ins	INS	ENST00000374677.3	37	c.1367_1368insG	CCDS43453.1																																																																																				0.564	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		7	206						7	206	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G	rs572254268	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(511-513)gggfs	p.G171fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	171	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(508-513)agggggfs		ring finger protein 1																																				SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33178989_33178990insG		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.517dupG	6.37:g.33178996_33178996dupG	ENSP00000363787:p.Gly171fs		Somatic				RING1_ENST00000478431.1_3'UTR	p.RG170fs	NM_002931.3	NP_002922.2	WXS	Illumina GAIIx	Phase_I	Q06587	RING1_HUMAN			5	718_719	+			170			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Ins	INS	ENST00000374656.4	37	c.510_511insG	CCDS34424.1																																																																																				0.619	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			10	420						10	420	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			14	252						14	252	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42237000	42237001	+	Frame_Shift_Ins	INS	-	-	C	rs200493020		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:42237000_42237001insC	ENST00000372922.4	-	5	890_891	c.328_329insG	c.(328-330)gcafs	p.A110fs	TRERF1_ENST00000541110.1_Frame_Shift_Ins_p.A110fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.A110fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.A110fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.A110fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	110					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGCTGGTGCCCCCCACATC	0.584																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(328-330)accfs		transcriptional regulating factor 1																																				SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42237000_42237001insC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.329dupG	6.37:g.42237006_42237006dupC	ENSP00000362013:p.Ala110fs		Somatic				TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000372922.4_Frame_Shift_Ins_p.T110fs	p.T110fs			WXS	Illumina GAIIx	Phase_I	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	896_897	-	Colorectal(47;0.196)		110					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Ins	INS	ENST00000372922.4	37	c.328_329insG	CCDS4867.1																																																																																				0.584	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		9	531						9	531	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)cccfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs		Somatic					p.P9fs	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	361_362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			18	269						18	269	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs		Somatic				HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		13	786						13	786	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs		Somatic				SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	WXS	Illumina GAIIx	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	425						7	425	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151670999	151671000	+	Frame_Shift_Ins	INS	-	-	C	rs377601028		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:151670999_151671000insC	ENST00000253332.1	+	3	1662_1663	c.1473_1474insC	c.(1474-1476)cccfs	p.P492fs	AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.P394fs|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000402676.2_Frame_Shift_Ins_p.P492fs|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.P387fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	492	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCTGTCCAAACCCCCCGAAGG	0.525																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1471-1476)aaccccfs		A kinase (PRKA) anchor protein 12																																				SO:0001589	frameshift_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670999_151671000insC	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1479dupC	6.37:g.151671005_151671005dupC	ENSP00000253332:p.Pro492fs		Somatic				AKAP12_ENST00000253332.1_Frame_Shift_Ins_p.NP491fs|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.NP386fs|AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.NP393fs	p.NP491fs	NM_005100.3	NP_005091.2	WXS	Illumina GAIIx	Phase_I	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1713_1714	+		Ovarian(120;0.125)	491			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Ins	INS	ENST00000253332.1	37	c.1473_1474insC	CCDS5229.1																																																																																				0.525	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			7	365						7	365	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155750039	155750040	+	Frame_Shift_Ins	INS	-	-	G	rs79326507	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:155750039_155750040insG	ENST00000159060.2	-	9	1135_1136	c.1033_1034insC	c.(1033-1035)cagfs	p.Q345fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	345	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAAGTCCTCCTGGGGGGCAGAG	0.614																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1033-1035)ggafs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750039_155750040insG	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1034dupC	6.37:g.155750045_155750045dupG	ENSP00000159060:p.Gln345fs		Somatic					p.G345fs	NM_015718.2	NP_056533.1	WXS	Illumina GAIIx	Phase_I	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1135_1136	-		Breast(66;0.0183)	345			FAD-binding FR-type.		Q9HBJ9	Frame_Shift_Ins	INS	ENST00000159060.2	37	c.1033_1034insC	CCDS5250.1																																																																																				0.614	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			8	181						8	181	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157522543	157522543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:157522543delG	ENST00000350026.5	+	17	4777	c.4776delG	c.(4774-4776)gagfs	p.E1592fs	ARID1B_ENST00000275248.4_Frame_Shift_Del_p.E1587fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.E1645fs|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.E1605fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1592	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAGAAGGGAGATCACCTTTC	0.512																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4813-4815)gafs		AT rich interactive domain 1B (SWI1-like)							119.0	114.0	116.0					6																	157522543		2203	4296	6499	SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522543delG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4776delG	6.37:g.157522543delG	ENSP00000055163:p.Glu1592fs		Somatic				ARID1B_ENST00000367148.1_Frame_Shift_Del_p.E1645fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.E1592fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.E1587fs	p.E1605fs	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4816	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1592					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.4815delG	CCDS5251.2																																																																																				0.512	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		55	161						55	161	---	---	---	---
TAGAP	117289	broad.mit.edu	37	6	159457430	159457430	+	Frame_Shift_Del	DEL	C	C	-	rs116639718	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:159457430delC	ENST00000367066.3	-	10	1956	c.1625delG	c.(1624-1626)ggtfs	p.G542fs	RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Frame_Shift_Del_p.G364fs|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	542					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTTTCTGACACCCCTCGGGAC	0.567																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1624-1626)gtfs		T-cell activation RhoGTPase activating protein							53.0	58.0	56.0					6																	159457430		2203	4300	6503	SO:0001589	frameshift_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457430delC	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1625delG	6.37:g.159457430delC	ENSP00000356033:p.Gly542fs		Somatic				RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Frame_Shift_Del_p.G364fs	p.G542fs	NM_054114.3	NP_473455.2	WXS	Illumina GAIIx	Phase_I	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	1956	-		Breast(66;0.000776)|Ovarian(120;0.0303)	542					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Frame_Shift_Del	DEL	ENST00000367066.3	37	c.1625delG	CCDS5261.1																																																																																				0.567	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		37	96						37	96	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			8	197						8	197	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27148052	27148053	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:27148052_27148053insG	ENST00000396352.4	-	3	1012_1013	c.813_814insC	c.(811-816)cccggafs	p.G272fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.G272fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	272					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCACCGGCTCCGGGGGGCACGG	0.619																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(811-816)ccgagcfs		homeobox A3																																				SO:0001589	frameshift_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148052_27148053insG		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.814dupC	7.37:g.27148058_27148058dupG	ENSP00000379640:p.Gly272fs		Somatic				HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.S272fs|HOXA-AS2_ENST00000518088.1_RNA	p.S272fs	NM_030661.4	NP_109377.1	WXS	Illumina GAIIx	Phase_I	O43365	HXA3_HUMAN			3	1012_1013	-			272					A4D181	Frame_Shift_Ins	INS	ENST00000396352.4	37	c.813_814insC	CCDS5404.1																																																																																				0.619	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			8	401						8	401	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		9	359						9	359	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:40899961_40899962insC	ENST00000335693.4	+	14	1244_1245	c.1221_1222insC	c.(1222-1224)cccfs	p.P408fs	C7orf10_ENST00000309930.5_Frame_Shift_Ins_p.P434fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.P360fs|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		408					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1297-1302)ccccccfs		chromosome 7 open reading frame 10																																				SO:0001589	frameshift_variant	79783						transferase activity	g.chr7:40899961_40899962insC																												ENST00000335693.4:c.1226dupC	7.37:g.40899966_40899966dupC	ENSP00000338475:p.Pro408fs		Somatic				C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs	p.PP433fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			15	1323_1324	+			407					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Frame_Shift_Ins	INS	ENST00000335693.4	37	c.1299_1300insC	CCDS55105.1																																																																																				0.569	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			9	770						9	770	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G	rs368613191		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:51287561_51287562insG	ENST00000265136.7	-	2	286_287	c.121_122insC	c.(121-123)cacfs	p.H41fs	COBL_ENST00000395542.2_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.H41fs|COBL_ENST00000441453.1_Frame_Shift_Ins_p.H41fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(121-123)cgafs		cordon-bleu WH2 repeat protein																																				SO:0001589	frameshift_variant	23242							g.chr7:51287561_51287562insG	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.122dupC	7.37:g.51287568_51287568dupG	ENSP00000265136:p.His41fs		Somatic				COBL_ENST00000395540.2_Frame_Shift_Ins_p.R41fs|COBL_ENST00000441453.1_Frame_Shift_Ins_p.R41fs|COBL_ENST00000265136.7_Frame_Shift_Ins_p.R41fs	p.R41fs			WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			2	305_306	-	Glioma(55;0.08)		41					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Ins	INS	ENST00000265136.7	37	c.121_122insC	CCDS34637.1																																																																																				0.604	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		7	155						7	155	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs		Somatic				SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	WXS	Illumina GAIIx	Phase_I	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		18	918						18	918	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs		Somatic					p.R119fs	NM_001283.3	NP_001274.1	WXS	Illumina GAIIx	Phase_I	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		11	190						11	190	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173277	126173278	+	Frame_Shift_Ins	INS	-	-	G	rs77499554		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:126173277_126173278insG	ENST00000339582.2	-	9	2966_2967	c.2158_2159insC	c.(2158-2160)cacfs	p.H720fs	GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	720					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AATGATGATGTGGGGGGGATCC	0.505										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2158-2160)catfs		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173277_126173278insG		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2159dupC	7.37:g.126173284_126173284dupG	ENSP00000344173:p.His720fs	HNSCC(24;0.065)	Somatic				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs	p.H720fs			WXS	Illumina GAIIx	Phase_I	O00222	GRM8_HUMAN			9	2966_2967	-		Prostate(267;0.186)	720					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Frame_Shift_Ins	INS	ENST00000339582.2	37	c.2158_2159insC	CCDS5794.1																																																																																				0.505	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			9	120						9	120	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs		Somatic				CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs	p.NP1127fs	NM_022742.4	NP_073579.4	WXS	Illumina GAIIx	Phase_I	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		15	2042						15	2042	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs		Somatic					p.I424fs	NM_019841.4	NP_062815.2	WXS	Illumina GAIIx	Phase_I	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		10	710						10	710	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1280					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3835-3840)atggggfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088682_2088683insG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3843dupG	8.37:g.2088688_2088688dupG	ENSP00000262113:p.Gly1280fs		Somatic				MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs	p.MG1279fs	NM_003970.2	NP_003961.2	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3978_3979	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1279					Q7Z3Y2	Frame_Shift_Ins	INS	ENST00000262113.4	37	c.3837_3838insG	CCDS5957.1																																																																																				0.446	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		8	410						8	410	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs		Somatic					p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	WXS	Illumina GAIIx	Phase_I	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		7	297						7	297	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs|FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2214)cctgcafs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs		Somatic				FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs	p.A738fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3026_3027	-			737					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2211_2212insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		8	804						8	804	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18680349	18680350	+	Frame_Shift_Ins	INS	-	-	G	rs199787607		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:18680349_18680350insG	ENST00000380548.4	+	11	1515_1516	c.1176_1177insG	c.(1177-1179)gggfs	p.G393fs	ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.G376fs|ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.G393fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.G393fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	393	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1174-1179)tgggggfs		ADAMTS-like 1			,	29,4235		0,29,2103					,	6.2	1.0			48	21,8233		0,21,4106	no	frameshift,frameshift	ADAMTSL1	NM_052866.4,NM_001040272.5	,	0,50,6209	A1A1,A1R,RR		0.2544,0.6801,0.3994	,	,		50,12468				SO:0001589	frameshift_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18680349_18680350insG	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1184dupG	9.37:g.18680357_18680357dupG	ENSP00000369921:p.Gly393fs		Somatic				ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.WG392fs|ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.WG375fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.WG392fs	p.WG392fs	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	11	1515_1516	+			392			TSP type-1 2.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Ins	INS	ENST00000380548.4	37	c.1176_1177insG	CCDS47954.1																																																																																				0.584	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			7	46						7	46	---	---	---	---
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G	rs202019820		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)cccaagfs	p.K165fs	FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.K148fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.K152fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.K163fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.K146fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.K136fs|FAM219A_ENST00000379084.1_Splice_Site_p.N147fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644																																						ENST00000445726.1																			0											c.(490-495)ccagtcfs		family with sequence similarity 219, member A																																				SO:0001589	frameshift_variant	203259							g.chr9:34401027_34401028insG	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.493dupC	9.37:g.34401034_34401034dupG	ENSP00000392452:p.Lys165fs		Somatic				FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs	p.V165fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	WXS	Illumina GAIIx	Phase_I	Q8IW50	CI025_HUMAN			6	798_799	-			165					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Frame_Shift_Ins	INS	ENST00000445726.1	37	c.492_493insC	CCDS55304.1																																																																																				0.644	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		10	128						10	128	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs		Somatic				PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	p.F788fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		11	275						11	275	---	---	---	---
PAX5	5079	broad.mit.edu	37	9	36882049	36882050	+	Frame_Shift_Ins	INS	-	-	G	rs34810717	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:36882049_36882050insG	ENST00000358127.4	-	8	1037_1038	c.963_964insC	c.(961-966)cccgctfs	p.A322fs	PAX5_ENST00000377852.2_Intron|PAX5_ENST00000414447.1_Frame_Shift_Ins_p.A279fs|PAX5_ENST00000520281.1_Frame_Shift_Ins_p.A279fs|PAX5_ENST00000522003.1_Frame_Shift_Ins_p.A214fs|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Frame_Shift_Ins_p.A322fs|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520154.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	322			A -> T (in dbSNP:rs34810717).		humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(22)|p.A322fs*19(3)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CCCTGTCCAGCGGGGGGGACGT	0.639			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	25	Unknown(22)|Insertion - Frameshift(3)	p.?(22)|p.A322fs*19(3)	haematopoietic_and_lymphoid_tissue(25)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(961-966)ccctggfs		paired box 5																																				SO:0001589	frameshift_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36882049_36882050insG		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.964dupC	9.37:g.36882056_36882056dupG	ENSP00000350844:p.Ala322fs		Somatic				PAX5_ENST00000523145.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000522003.1_Frame_Shift_Ins_p.W214fs|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000414447.1_Frame_Shift_Ins_p.W279fs|PAX5_ENST00000377853.2_Frame_Shift_Ins_p.W322fs|PAX5_ENST00000520281.1_Frame_Shift_Ins_p.W279fs	p.W322fs	NM_016734.1	NP_057953.1	WXS	Illumina GAIIx	Phase_I	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	8	1037_1038	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	322		A -> T (in dbSNP:rs34810717).			A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Frame_Shift_Ins	INS	ENST00000358127.4	37	c.963_964insC	CCDS6607.1																																																																																				0.639	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			7	153						7	153	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:100082417_100082418insC	ENST00000357054.1	+	25	2573_2574	c.1638_1639insC	c.(1639-1641)cccfs	p.P547fs	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Frame_Shift_Ins_p.P408fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.P507fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.P408fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.P405fs			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	547						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTGACCTCCTGCCCCCCAGTTA	0.505																																						ENST00000375202.2																			0											c.(1219-1224)ctccccfs		coiled-coil domain containing 180																																				SO:0001589	frameshift_variant	100499483							g.chr9:100082417_100082418insC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1644dupC	9.37:g.100082423_100082423dupC	ENSP00000349562:p.Pro547fs		Somatic				CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs	p.LP407fs			WXS	Illumina GAIIx	Phase_I					25	2573_2574	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Ins	INS	ENST00000357054.1	37	c.1221_1222insC																																																																																					0.505	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		8	452						8	452	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																						ENST00000374865.4																			1	Substitution - coding silent(1)	p.P150P(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)	5						c.(448-453)ccatttfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs		Somatic				MRPL50_ENST00000539624.1_Intron	p.F151fs	NM_019051.2	NP_061924.1	WXS	Illumina GAIIx	Phase_I	Q8N5N7	RM50_HUMAN			2	471_472	-		Acute lymphoblastic leukemia(62;0.0559)	151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		10	229						10	229	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)gccfs	p.A678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2032-2034)cccfs		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001589	frameshift_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982329_118982330insC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2038dupC	9.37:g.118982335_118982335dupC	ENSP00000330658:p.Ala678fs		Somatic				PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	Q13219	PAPP1_HUMAN			5	2401_2402	+			678					B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	ENST00000328252.3	37	c.2032_2033insC	CCDS6813.1																																																																																				0.574	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		19	605						19	605	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G	rs577492421		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)cagfs	p.Q3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.45																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10285-10287)gaafs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877089_16877090insG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10286dupC	10.37:g.16877095_16877095dupG	ENSP00000367064:p.Gln3429fs		Somatic					p.E3429fs	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			64	10350_10351	-			3429			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.10285_10286insC	CCDS7113.1																																																																																				0.450	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	500						7	500	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G	rs573639267	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:21962451_21962452insG	ENST00000307729.7	+	11	1402_1403	c.1224_1225insG	c.(1225-1227)gggfs	p.G409fs	MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000377072.3_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.G409fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	409	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		1	Insertion - Frameshift(1)	p.V411fs*3(1)	large_intestine(1)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1222-1227)gaggggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10																																				SO:0001589	frameshift_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962451_21962452insG	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1231dupG	10.37:g.21962458_21962458dupG	ENSP00000307411:p.Gly409fs		Somatic				MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	p.EG408fs	NM_004641.3	NP_004632.1	WXS	Illumina GAIIx	Phase_I	P55197	AF10_HUMAN			11	1572_1573	+			408			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Ins	INS	ENST00000307729.7	37	c.1224_1225insG	CCDS55708.1																																																																																				0.436	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			7	352						7	352	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30315843	30315844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:30315843_30315844insG	ENST00000375377.1	-	3	3334_3335	c.3233_3234insC	c.(3232-3234)ccafs	p.P1078fs		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1078					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGACTCACCTGGGGGGATTTC	0.619																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3232-3234)cggfs		KIAA1462																																				SO:0001589	frameshift_variant	57608							g.chr10:30315843_30315844insG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3234dupC	10.37:g.30315849_30315849dupG	ENSP00000364526:p.Pro1078fs		Somatic					p.R1078fs	NM_020848.2	NP_065899.1	WXS	Illumina GAIIx	Phase_I	Q9P266	K1462_HUMAN			3	3334_3335	-			1078					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Frame_Shift_Ins	INS	ENST00000375377.1	37	c.3233_3234insC	CCDS41500.1																																																																																				0.619	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		7	539						7	539	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		13	218						13	218	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.52																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821327_51821328insG																													10.37:g.51821333_51821333dupG			Somatic						NR_038275.1		WXS	Illumina GAIIx	Phase_I					0	1306_1307	-									RNA	INS	ENST00000456967.1	37																																																																																						0.520	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			12	423						12	423	---	---	---	---
CCDC6	8030	broad.mit.edu	37	10	61666039	61666040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:61666039_61666040insC	ENST00000263102.6	-	1	374_375	c.143_144insG	c.(142-144)ggcfs	p.G48fs		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	48						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		AGATGACAATGCCCCCCGACTT	0.678			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(142-144)gatfs		coiled-coil domain containing 6																																				SO:0001589	frameshift_variant	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666039_61666040insC	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.144dupG	10.37:g.61666045_61666045dupC	ENSP00000263102:p.Gly48fs		Somatic					p.D48fs	NM_005436.4	NP_005427.2	WXS	Illumina GAIIx	Phase_I	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	374_375	-			48					Q15250|Q6GSG7	Frame_Shift_Ins	INS	ENST00000263102.6	37	c.143_144insG	CCDS7257.1																																																																																				0.678	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		7	225						7	225	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)tggfs	p.W233fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	233						cytosol (GO:0005829)											CGAGGACCTGTGGGGGGAGCCC	0.604																																						ENST00000263563.6																			0											c.(697-699)gggfs		phosphatase domain containing, paladin 1																																				SO:0001589	frameshift_variant	27143							g.chr10:72292440_72292441insG	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.703dupG	10.37:g.72292446_72292446dupG	ENSP00000263563:p.Trp233fs		Somatic					p.G233fs	NM_014431.2	NP_055246.2	WXS	Illumina GAIIx	Phase_I					6	965_966	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS	ENST00000263563.6	37	c.697_698insG	CCDS31215.1																																																																																				0.604	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		9	1143						9	1143	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	28	635						28	635	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1719)caccccfs	p.HP572fs	CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.HP276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.HP572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.51																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1714-1716)cccfs		cadherin-related family member 1																																				SO:0001589	frameshift_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972096_85972097insC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1721dupC	10.37:g.85972102_85972102dupC	ENSP00000361189:p.His572fs		Somatic				CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs	p.P572fs	NM_033100.2	NP_149091.1	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			15	1818_1819	+			572			Cadherin 5.		Q69YZ8|Q8IXY5	Frame_Shift_Ins	INS	ENST00000372117.3	37	c.1715_1716insC	CCDS7372.1																																																																																				0.510	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		7	717						7	717	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:93272060_93272061insC	ENST00000298068.5	+	21	2344_2345	c.2250_2251insC	c.(2251-2253)cccfs	p.P751fs	HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.P401fs|HECTD2_ENST00000446394.1_Frame_Shift_Ins_p.P755fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.P340fs	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(2260-2265)ctccccfs		HECT domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93272060_93272061insC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2256dupC	10.37:g.93272066_93272066dupC	ENSP00000298068:p.Pro751fs		Somatic				HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs	p.LP754fs			WXS	Illumina GAIIx	Phase_I	Q5U5R9	HECD2_HUMAN			22	2362_2363	+			750			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Ins	INS	ENST00000298068.5	37	c.2262_2263insC	CCDS7414.1																																																																																				0.356	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			10	432						10	432	---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96112093	96112093	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:96112093delA	ENST00000371361.3	-	8	1026	c.926delT	c.(925-927)ttgfs	p.L309fs	NOC3L_ENST00000371350.1_Frame_Shift_Del_p.L309fs|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Frame_Shift_Del_p.L47fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	309					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAGATTTTCCAAATAAAACTT	0.328																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(925-927)tgfs		nucleolar complex associated 3 homolog (S. cerevisiae)							84.0	87.0	86.0					10																	96112093		2202	4299	6501	SO:0001589	frameshift_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96112093delA	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.926delT	10.37:g.96112093delA	ENSP00000360412:p.Leu309fs		Somatic				NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Frame_Shift_Del_p.L47fs|NOC3L_ENST00000371350.1_Frame_Shift_Del_p.L309fs	p.L309fs	NM_022451.9	NP_071896.8	WXS	Illumina GAIIx	Phase_I	Q8WTT2	NOC3L_HUMAN			8	1026	-		Colorectal(252;0.0897)	309					Q9H5M6|Q9H9D8	Frame_Shift_Del	DEL	ENST00000371361.3	37	c.926delT	CCDS7433.1																																																																																				0.328	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		9	20						9	20	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123988973	123988974	+	Frame_Shift_Ins	INS	-	-	C	rs147846497		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:123988973_123988974insC	ENST00000369005.1	+	15	8349_8350	c.8009_8010insC	c.(8008-8013)aaccccfs	p.NP2670fs	TACC2_ENST00000515603.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.NP816fs|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000260733.3_Frame_Shift_Ins_p.NP748fs|TACC2_ENST00000369004.3_Frame_Shift_Ins_p.NP760fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.NP2670fs|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000360561.3_Frame_Shift_Ins_p.NP748fs|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.NP816fs|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000368999.1_Frame_Shift_Ins_p.NP760fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2670					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCAGAAAAGAACCCCCCACTAT	0.545																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8008-8010)accfs		transforming, acidic coiled-coil containing protein 2																																				SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123988973_123988974insC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8015dupC	10.37:g.123988979_123988979dupC	ENSP00000358001:p.Asn2670fs		Somatic				TACC2_ENST00000453444.2_Intron|TACC2_ENST00000360561.3_Frame_Shift_Ins_p.T748fs|TACC2_ENST00000369004.3_Frame_Shift_Ins_p.T760fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.T2670fs|TACC2_ENST00000368999.1_Frame_Shift_Ins_p.T760fs|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.T816fs|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000260733.3_Frame_Shift_Ins_p.T748fs|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.T816fs	p.T2670fs	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			15	8349_8350	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2670					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Ins	INS	ENST00000369005.1	37	c.8009_8010insC	CCDS7626.1																																																																																				0.545	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	446						8	446	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		CTTTGCCTCCAGGGGGGGAAGG	0.53																																						ENST00000456581.1																			0																																																			387723							g.chr10:131905959_131905960insG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131905966_131905966dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			7	203						7	203	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	611						9	611	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)ggcfs	p.G968fs	DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.G968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.G311fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACATGGAGCCCCCCAGCTT	0.48																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2902-2904)gtcfs		DENN/MADD domain containing 5A																																				SO:0001589	frameshift_variant	23258							g.chr11:9167316_9167317insC	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2904dupG	11.37:g.9167322_9167322dupC	ENSP00000328524:p.Gly968fs		Somatic				DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs	p.V968fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	WXS	Illumina GAIIx	Phase_I	Q6IQ26	DEN5A_HUMAN			17	3223_3224	-			968			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Frame_Shift_Ins	INS	ENST00000328194.3	37	c.2903_2904insG	CCDS31423.1																																																																																				0.480	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		7	909						7	909	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs		Somatic				PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	p.D101fs	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		37	894						37	894	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs		Somatic					p.IP250fs	NM_001004725.1	NP_001004725.1	WXS	Illumina GAIIx	Phase_I	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		10	866						10	866	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-393)cattttfs	p.HF130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.46																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(388-390)cttfs		olfactory receptor, family 4, subfamily C, member 3																																				SO:0001589	frameshift_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346881_48346882insT	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.395dupT	11.37:g.48346887_48346887dupT	ENSP00000321419:p.His130fs		Somatic					p.L130fs	NM_001004702.1	NP_001004702.1	WXS	Illumina GAIIx	Phase_I	Q8NH37	OR4C3_HUMAN			1	410_411	+			103					B2RNF2|Q6IFB3	Frame_Shift_Ins	INS	ENST00000319856.4	37	c.389_390insT	CCDS31489.1																																																																																				0.460	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		7	1748						7	1748	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1038)agccccfs	p.SP345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.SP292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1033-1035)accfs		zinc finger, DHHC-type containing 5																																				SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57464257_57464258insC	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1040dupC	11.37:g.57464263_57464263dupC	ENSP00000287169:p.Ser345fs		Somatic				ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	p.T345fs	NM_015457.2	NP_056272.2	WXS	Illumina GAIIx	Phase_I	Q9C0B5	ZDHC5_HUMAN			10	2396_2397	+			345					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Ins	INS	ENST00000287169.3	37	c.1034_1035insC	CCDS7965.1																																																																																				0.515	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		7	199						7	199	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	C11orf31_ENST00000534355.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs		Somatic				TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	p.NP128fs	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		9	416						9	416	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs		Somatic				CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	p.C263fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		13	687						13	687	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000278893.7_Intron|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs		Somatic				BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000278893.7_Intron	p.D325fs			WXS	Illumina GAIIx	Phase_I	Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		12	192						12	192	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					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						TCACTGATGCGCCCCCCGAGTG	0.579																																						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.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	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.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs		Somatic				DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			9	228						9	228	---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)ggcfs	p.G132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.G132fs|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						AGGGGTTCTTGCCCCCCAGCTC	0.644																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(394-396)gaafs		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)																																			SO:0001589	frameshift_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433066_67433067insC	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.396dupG	11.37:g.67433072_67433072dupC	ENSP00000255084:p.Gly132fs		Somatic				ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	p.E132fs	NM_000695.3	NP_000686.2	WXS	Illumina GAIIx	Phase_I	P48448	AL3B2_HUMAN			7	833_834	-			132	G -> V (in Ref. 4; BAC03897).				Q53Y98|Q8NAL5|Q96IB2	Frame_Shift_Ins	INS	ENST00000349015.3	37	c.395_396insG	CCDS31622.1																																																																																				0.644	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		9	731						9	731	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs		Somatic				NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		12	955						12	955	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118344185	118344186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:118344185_118344186insC	ENST00000389506.5	+	3	2311_2312	c.2311_2312insC	c.(2311-2313)accfs	p.T771fs	KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.T771fs|KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.T771fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	771					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTCACCTCTCACCCCCCCGTCT	0.45																																						ENST00000534358.1																			0											c.(2311-2313)cccfs		lysine (K)-specific methyltransferase 2A																																				SO:0001589	frameshift_variant	4297							g.chr11:118344185_118344186insC	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2318dupC	11.37:g.118344192_118344192dupC	ENSP00000374157:p.Thr771fs		Somatic				KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P771fs|KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.P771fs	p.P771fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2	WXS	Illumina GAIIx	Phase_I					3	2334_2335	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.2311_2312insC	CCDS31686.1																																																																																				0.450	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		16	302						16	302	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs		Somatic				CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			WXS	Illumina GAIIx	Phase_I	Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		8	277						8	277	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		13	1247						13	1247	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)ccafs	p.P800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2398-2400)caafs		ADAM metallopeptidase with thrombospondin type 1 motif, 8																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275723_130275724insG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2400dupC	11.37:g.130275729_130275729dupG	ENSP00000257359:p.Pro800fs		Somatic					p.Q800fs	NM_007037.4	NP_008968.4	WXS	Illumina GAIIx	Phase_I	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3105_3106	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	800			Spacer.		Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	c.2399_2400insC	CCDS41732.1																																																																																				0.579	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		16	1553						16	1553	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs		Somatic				IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		14	161						14	161	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153463_6153464insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs		Somatic					p.R812fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	402						7	402	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs		Somatic				CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		7	361						7	361	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			15	1138						15	1138	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			13	157						13	157	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46246304	46246304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:46246304delT	ENST00000334344.6	+	15	4570	c.4398delT	c.(4396-4398)agtfs	p.S1466fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.S1317fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.S1076fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.S74fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1466					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACGCCCAAGTGTAGTTGTCT	0.443			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4396-4398)agfs		AT rich interactive domain 2 (ARID, RFX-like)							139.0	134.0	136.0					12																	46246304		2203	4300	6503	SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246304delT		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4398delT	12.37:g.46246304delT	ENSP00000335044:p.Ser1466fs		Somatic				ARID2_ENST00000457135.1_Frame_Shift_Del_p.S74fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.S1076fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.S1317fs	p.S1466fs	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4570	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1466					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.4398delT	CCDS31783.1																																																																																				0.443	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		30	491						30	491	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs		Somatic					p.P647fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	288						8	288	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs		Somatic				PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	WXS	Illumina GAIIx	Phase_I	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		15	181						15	181	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)gccfs	p.A520fs	PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.A500fs|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.A479fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGAAGAAGAGGCCCCCCCATCC	0.559																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1558-1560)cccfs		phosphodiesterase 1B, calmodulin-dependent																																				SO:0001589	frameshift_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54971059_54971060insC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1565dupC	12.37:g.54971066_54971066dupC	ENSP00000243052:p.Ala520fs		Somatic				PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs	p.P520fs	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			15	1994_1995	+			520					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.1558_1559insC	CCDS8882.1																																																																																				0.559	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			12	464						12	464	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			17	3360						17	3360	---	---	---	---
SUOX	6821	broad.mit.edu	37	12	56398690	56398693	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:56398690_56398693delTTGT	ENST00000394109.3	+	3	2241_2244	c.1517_1520delTTGT	c.(1516-1521)attgttfs	p.IV506fs	SUOX_ENST00000356124.4_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000548274.1_Frame_Shift_Del_p.IV506fs|IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000266971.3_Frame_Shift_Del_p.IV506fs			P51687	SUOX_HUMAN	sulfite oxidase	506	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAACTGAACATTGTTTGTAAGGCT	0.559																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(1516-1521)atfs		sulfite oxidase																																				SO:0001589	frameshift_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398690_56398693delTTGT	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1517_1520delTTGT	12.37:g.56398694_56398697delTTGT	ENSP00000377668:p.Ile506fs		Somatic				SUOX_ENST00000266971.3_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000356124.4_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000548274.1_Frame_Shift_Del_p.IV506fs	p.IV506fs			WXS	Illumina GAIIx	Phase_I	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	2241_2244	+			506			Molybdenum-pterin domain (By similarity).			Frame_Shift_Del	DEL	ENST00000394109.3	37	c.1517_1520delTTGT	CCDS8901.2																																																																																				0.559	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		9	565						9	565	---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cctfs	p.P689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(2065-2067)cgafs		zinc finger and BTB domain containing 39																																				SO:0001589	frameshift_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396635_57396636insG	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.2067dupC	12.37:g.57396641_57396641dupG	ENSP00000300101:p.Pro689fs		Somatic					p.R689fs	NM_014830.2	NP_055645.1	WXS	Illumina GAIIx	Phase_I	O15060	ZBT39_HUMAN			2	2151_2152	-			689		P -> A (in dbSNP:rs3741576).			A7MD38|Q9UD98	Frame_Shift_Ins	INS	ENST00000300101.2	37	c.2066_2067insC	CCDS31839.1																																																																																				0.569	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		8	681						8	681	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.K1033fs|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.K871fs|TAC3_ENST00000415231.1_5'UTR	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		Somatic				MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs|TAC3_ENST00000415231.1_5'UTR	p.R1033fs	NM_001256041.1	NP_001242970.1	WXS	Illumina GAIIx	Phase_I	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		10	674						10	674	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs		Somatic				GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	p.G272fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		41	791						41	791	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs		Somatic				MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000545204.1_Intron	p.NP318fs	NM_002392.4	NP_002383.2	WXS	Illumina GAIIx	Phase_I	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		17	501						17	501	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs		Somatic				BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs	p.PG444fs	NM_032735.2	NP_116124.2	WXS	Illumina GAIIx	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		15	254						15	254	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	288						12	288	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(328-330)cccfs	p.P110fs	RNA5SP372_ENST00000390836.1_RNA|USP30_ENST00000392784.2_Frame_Shift_Ins_p.P79fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	110	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(325-330)gaccccfs		ubiquitin specific peptidase 30																																				SO:0001589	frameshift_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109495864_109495865insC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.333dupC	12.37:g.109495870_109495870dupC	ENSP00000257548:p.Pro110fs		Somatic				USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	p.DP109fs	NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	Q70CQ3	UBP30_HUMAN			3	420_421	+			109					Q8WTU7|Q96JX4|Q9BSS3	Frame_Shift_Ins	INS	ENST00000257548.5	37	c.327_328insC	CCDS9123.2																																																																																				0.485	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		9	889						9	889	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109927823	109927824	+	Intron	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:109927823_109927824insC	ENST00000342494.3	+	8	1225				UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000537063.1_Frame_Shift_Ins_p.CP215fs|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000540230.1_Intron	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTGACTCCTGCCCCCCAGTGT	0.465																																						ENST00000537063.1																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(643-645)tccfs		ubiquitin protein ligase E3B																																				SO:0001627	intron_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109927823_109927824insC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.630+14->C	12.37:g.109927829_109927829dupC			Somatic				UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000342494.3_Intron	p.S215fs			WXS	Illumina GAIIx	Phase_I	Q7Z3V4	UBE3B_HUMAN			8	881_882	+			0					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Frame_Shift_Ins	INS	ENST00000342494.3	37	c.644_645insC	CCDS9129.1																																																																																				0.465	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		8	157						8	157	---	---	---	---
SH2B3	10019	broad.mit.edu	37	12	111885144	111885145	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:111885144_111885145insG	ENST00000341259.2	+	6	1389_1390	c.1032_1033insG	c.(1033-1035)gggfs	p.G345fs	SH2B3_ENST00000538307.1_Frame_Shift_Ins_p.G143fs	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	345					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	GTGCTTCTCCTGGGGGGCTGCT	0.599																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1030-1035)ccggggfs		SH2B adaptor protein 3																																				SO:0001589	frameshift_variant	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885144_111885145insG	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1038dupG	12.37:g.111885150_111885150dupG	ENSP00000345492:p.Gly345fs		Somatic				SH2B3_ENST00000538307.1_Frame_Shift_Ins_p.PG142fs	p.PG344fs	NM_005475.2	NP_005466.1	WXS	Illumina GAIIx	Phase_I	Q9UQQ2	SH2B3_HUMAN			6	1389_1390	+			344					B9EGG5|O95184	Frame_Shift_Ins	INS	ENST00000341259.2	37	c.1032_1033insG	CCDS9153.1																																																																																				0.599	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		7	270						7	270	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG			Somatic				SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	8	979						8	979	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs|KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs		Somatic				KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs	p.P507fs	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		10	229						10	229	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs		Somatic					p.V116fs	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		11	406						11	406	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133226298	133226298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:133226298delT	ENST00000320574.5	-	30	3803	c.3760delA	c.(3760-3762)atcfs	p.I1254fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.I1227fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1254					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGCCCCAAGATTTCCTGCCAG	0.627								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3760-3762)tcfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							118.0	118.0	118.0					12																	133226298		2203	4300	6503	SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133226298delT		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3760delA	12.37:g.133226298delT	ENSP00000322570:p.Ile1254fs		Somatic				POLE_ENST00000535270.1_Frame_Shift_Del_p.I1227fs	p.I1254fs	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	30	3803	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1254					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.3760delA	CCDS9278.1																																																																																				0.627	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		148	305						148	305	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2089-2094)cctgttfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs		Somatic				POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2134_2135	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	206						8	206	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs529562240|rs141115887	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:133277869_133277870insG	ENST00000317479.3	+	4	498_499	c.433_434insG	c.(433-435)aggfs	p.R145fs	PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000545677.1_Frame_Shift_Ins_p.EG16fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.R52fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	145						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	23	0.00459265	0.0	0.0029	5008	,	,		16275	0.0		0.004	False		,,,				2504	0.0174					ENST00000545677.1																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(46-48)gggfs		peroxisomal membrane protein 2, 22kDa				4,4258		0,4,2127						2.8	0.0			75	23,8231		0,23,4104	no	frameshift	PXMP2	NM_018663.1		0,27,6231	A1A1,A1R,RR		0.2787,0.0939,0.2157				27,12489				SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277869_133277870insG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.440dupG	12.37:g.133277876_133277876dupG	ENSP00000321271:p.Arg145fs		Somatic				PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs	p.G16fs			WXS	Illumina GAIIx	Phase_I	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	3	250_251	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		0						Frame_Shift_Ins	INS	ENST00000317479.3	37	c.47_48insG	CCDS9279.1																																																																																				0.614	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		7	135						7	135	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Somatic				KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		11	279						11	279	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:76375005_76375006insG	ENST00000341547.4	+	8	2064_2065	c.804_805insG	c.(805-807)gggfs	p.G269fs	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000357063.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.G178fs|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	269					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.45																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(802-807)agggggfs		LIM domain 7																																				SO:0001589	frameshift_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76375005_76375006insG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.810dupG	13.37:g.76375011_76375011dupG	ENSP00000342112:p.Gly269fs		Somatic				RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs	p.RG268fs			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2064_2065	+		Breast(118;0.0992)	268					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Ins	INS	ENST00000341547.4	37	c.804_805insG	CCDS9454.1																																																																																				0.450	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		12	807						12	807	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:77641916_77641917insG	ENST00000544440.2	-	71	12157_12158	c.12140_12141insC	c.(12139-12141)ccafs	p.P4047fs	MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.P4047fs|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.P4085fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12253-12255)cgcfs		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77641916_77641917insG	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12141dupC	13.37:g.77641922_77641922dupG	ENSP00000444596:p.Pro4047fs		Somatic				MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs	p.R4085fs	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	71	12520_12521	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4047						Frame_Shift_Ins	INS	ENST00000544440.2	37	c.12254_12255insC																																																																																					0.436	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		11	393						11	393	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:97928603_97928604insC	ENST00000376673.3	+	2	895_896	c.114_115insC	c.(115-117)cccfs	p.P39fs	MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000345429.6_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.P39fs			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	39					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(112-117)caccccfs		muscleblind-like splicing regulator 2																																				SO:0001589	frameshift_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97928603_97928604insC	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.120dupC	13.37:g.97928609_97928609dupC	ENSP00000365861:p.Pro39fs		Somatic				MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs	p.HP38fs	NM_144778.3	NP_659002.1	WXS	Illumina GAIIx	Phase_I	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		2	895_896	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		38					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Frame_Shift_Ins	INS	ENST00000376673.3	37	c.114_115insC																																																																																					0.411	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		8	453						8	453	---	---	---	---
CARS2	79587	broad.mit.edu	37	13	111335435	111335435	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:111335435delT	ENST00000257347.4	-	6	681	c.618delA	c.(616-618)aaafs	p.K206fs	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	206					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGCCGACCAATTTGCCATACT	0.522																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(616-618)aafs		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						123.0	121.0	121.0					13																	111335435		2203	4300	6503	SO:0001589	frameshift_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111335435delT	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.618delA	13.37:g.111335435delT	ENSP00000257347:p.Lys206fs		Somatic				CARS2_ENST00000535398.1_5'UTR	p.K206fs	NM_024537.2	NP_078813.1	WXS	Illumina GAIIx	Phase_I	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		6	681	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		206					Q8NI84|Q96IV4	Frame_Shift_Del	DEL	ENST00000257347.4	37	c.618delA	CCDS9514.1																																																																																				0.522	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		138	263						138	263	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs		Somatic					p.P57fs	NM_001004724.1	NP_001004724.1	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			8	1016						8	1016	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)ggtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852646_20852647insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3243dupG	14.37:g.20852653_20852653dupC	ENSP00000262715:p.Gly1081fs		Somatic				TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	WXS	Illumina GAIIx	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282_3283	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.3242_3243insG	CCDS9548.1																																																																																				0.584	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		8	335						8	335	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs		Somatic					p.E1043fs	NM_007192.3	NP_009123.1	WXS	Illumina GAIIx	Phase_I	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			7	464						7	464	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)ccafs	p.P529fs	SALL2_ENST00000450879.2_Frame_Shift_Ins_p.P392fs|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529					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(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.53																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(1585-1587)cggfs		spalt-like transcription factor 2																																				SO:0001589	frameshift_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992275_21992276insG	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1587dupC	14.37:g.21992282_21992282dupG	ENSP00000333537:p.Pro529fs		Somatic				SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron	p.R529fs	NM_005407.1	NP_005398.1	WXS	Illumina GAIIx	Phase_I	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1880_1881	-	all_cancers(95;0.000662)		529					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Frame_Shift_Ins	INS	ENST00000327430.3	37	c.1586_1587insC	CCDS32045.1																																																																																				0.530	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		8	194						8	194	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)tccfs	p.S9fs	AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.S9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.S9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(25-27)cccfs		A kinase (PRKA) anchor protein 6																																				SO:0001589	frameshift_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:32902724_32902725insC	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.31dupC	14.37:g.32902730_32902730dupC	ENSP00000280979:p.Ser9fs		Somatic				AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR	p.P9fs	NM_004274.4	NP_004265.3	WXS	Illumina GAIIx	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	2	195_196	+	Breast(36;0.0388)|Prostate(35;0.15)		9					A7E242|A7E2D4|O15028	Frame_Shift_Ins	INS	ENST00000280979.4	37	c.25_26insC	CCDS9644.1																																																																																				0.505	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		7	506						7	506	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)gatfs		potassium voltage-gated channel, subfamily H (eag-related), member 5			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.D964fs	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158_3159	-			964					C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		17	252						17	252	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|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)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs		Somatic				GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina GAIIx	Phase_I					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		11	236						11	236	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cctfs	p.P239fs	MED6_ENST00000430055.2_Frame_Shift_Ins_p.P246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.P239fs|MED6_ENST00000440435.2_3'UTR	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.45																																						ENST00000256379.5																			1	Insertion - Frameshift(1)	p.E240fs*1(1)	skin(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(715-717)cgafs		mediator complex subunit 6																																				SO:0001589	frameshift_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051554_71051555insG	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.717dupC	14.37:g.71051560_71051560dupG	ENSP00000256379:p.Pro239fs		Somatic				MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs	p.R239fs	NM_005466.2	NP_005457.2	WXS	Illumina GAIIx	Phase_I	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	8	745_746	-			239					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Frame_Shift_Ins	INS	ENST00000256379.5	37	c.716_717insC	CCDS9805.1																																																																																				0.450	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		7	785						7	785	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		Somatic	OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	WXS	Illumina GAIIx	Phase_I	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		11	346						11	346	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs200121839|rs11542063	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(367-369)cccfs	p.P123fs	SORD_ENST00000558580.1_Frame_Shift_Ins_p.P102fs|RP11-109D20.1_ENST00000560324.1_RNA	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	123					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCTGTGCCACGCCCCCCGATGA	0.53																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(364-369)acccccfs		sorbitol dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353365_45353366insC		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.372dupC	15.37:g.45353371_45353371dupC	ENSP00000267814:p.Pro123fs		Somatic				SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	p.TP122fs	NM_003104.5	NP_003095.2	WXS	Illumina GAIIx	Phase_I	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	546_547	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	122					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Frame_Shift_Ins	INS	ENST00000267814.9	37	c.366_367insC	CCDS10116.1																																																																																				0.530	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			8	305						8	305	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2941-2943)cccfs	p.P981fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	981						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.55																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2938-2943)gtccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967993_64967994insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2946dupC	15.37:g.64967999_64967999dupC	ENSP00000316527:p.Pro981fs		Somatic					p.VP980fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			4	3068_3069	+			980					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.2940_2941insC	CCDS32270.1																																																																																				0.550	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		10	1251						10	1251	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)gggcctfs	p.P223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(664-669)ggctggfs		chondroitin sulfate synthase 1																																				SO:0001589	frameshift_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775436_101775437insC	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.667dupG	15.37:g.101775443_101775443dupC	ENSP00000254190:p.Pro223fs		Somatic					p.W223fs	NM_014918.4	NP_055733.2	WXS	Illumina GAIIx	Phase_I	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	1141_1142	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		223					Q6UX38|Q7LFU5|Q9Y2J5	Frame_Shift_Ins	INS	ENST00000254190.3	37	c.666_667insG	CCDS10390.1																																																																																				0.614	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		7	123						7	123	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)accfs	p.T1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4531-4533)cccfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815060_2815061insC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4537dupC	16.37:g.2815066_2815066dupC	ENSP00000301740:p.Thr1511fs		Somatic					p.P1511fs	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	5080_5081	+			1511			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.4531_4532insC	CCDS32373.1																																																																																				0.525	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			7	812						7	812	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			9	691						9	691	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1204-1209)ctccccfs		acyl-CoA synthetase medium-chain family member 2A																																				SO:0001589	frameshift_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489924_20489925insC	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs		Somatic				ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs	p.LP402fs	NM_001010845.2	NP_001010845.1	WXS	Illumina GAIIx	Phase_I	Q08AH3	ACS2A_HUMAN			10	1320_1321	+			402					B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	c.1206_1207insC	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		8	303						8	303	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G	rs571509663		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTATAACAAAGGGGGGGGAAA	0.381																																						ENST00000546471.1																			0																																																			730092							g.chr16:21814059_21814060insG			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814067_21814067dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		8	80						8	80	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)caafs	p.Q814fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.Q736fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2440-2442)accfs		Rho GTPase activating protein 17																																				SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942179_24942180insG	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2441dupC	16.37:g.24942186_24942186dupG	ENSP00000289968:p.Gln814fs		Somatic				ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR	p.T814fs	NM_001006634.1	NP_001006635.1	WXS	Illumina GAIIx	Phase_I	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2509_2510	-			814			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Ins	INS	ENST00000289968.6	37	c.2440_2441insC	CCDS32409.1																																																																																				0.574	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		8	146						8	146	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs		Somatic				TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs	p.D235fs			WXS	Illumina GAIIx	Phase_I	O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		10	239						10	239	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30389139	30389140	+	IGR	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:30389139_30389140insC	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Frame_Shift_Ins_p.FP143fs			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TGGGCGGCCTTCCCCCCCGACG	0.673																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(427-429)tccfs		myosin light chain, phosphorylatable, fast skeletal muscle																																				SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30389139_30389140insC	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30389146_30389146dupC			Somatic					p.S143fs	NM_013292.3	NP_037424.2	WXS	Illumina GAIIx	Phase_I	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		7	509_510	+			143			EF-hand 3.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Frame_Shift_Ins	INS	ENST00000571393.1	37	c.428_429insC																																																																																					0.673	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		9	155						9	155	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs		Somatic					p.S38fs	NM_032935.2	NP_116324.1	WXS	Illumina GAIIx	Phase_I	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		18	1117						18	1117	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002					ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)gccfs		chromosome 16 open reading frame 70																																				SO:0001589	frameshift_variant	80262							g.chr16:67180988_67180989insC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs		Somatic				C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	p.A408fs	NM_025187.3	NP_079463.2	WXS	Illumina GAIIx	Phase_I	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1411_1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	c.1223_1224insC	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		10	373						10	373	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	203						extracellular region (GO:0005576)											CTTTTTCAGATCCCCCCTTCTG	0.455																																						ENST00000429990.1																			0											c.e6-1		nuclear pore complex interacting protein family, member B15																																				SO:0001630	splice_region_variant	440348							g.chr16:74423894_74423895insC	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.607-1->C	16.37:g.74423900_74423900dupC			Somatic					p.T203_splice			WXS	Illumina GAIIx	Phase_I					6	704_705	+								C9J9U8	Splice_Site	INS	ENST00000429990.1	37	c.606_splice																																																																																					0.455	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059	Frame_Shift_Ins	7	1257						7	1257	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|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)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs		Somatic					p.G361fs	NM_002945.3	NP_002936.1	WXS	Illumina GAIIx	Phase_I	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		9	1011						9	1011	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs		Somatic				PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	p.SG348fs	NM_000430.3	NP_000421.1	WXS	Illumina GAIIx	Phase_I	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		10	702						10	702	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.P510fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.P549fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.P510fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	549					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1642-1647)ctccccfs		zinc finger, MYND-type containing 15																																				SO:0001589	frameshift_variant	84225						zinc ion binding	g.chr17:4647723_4647724insC	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1650dupC	17.37:g.4647729_4647729dupC	ENSP00000391742:p.Pro549fs		Somatic				ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs	p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	WXS	Illumina GAIIx	Phase_I	Q9H091	ZMY15_HUMAN			10	1701_1702	+			509					B4DXY5|I3L296	Frame_Shift_Ins	INS	ENST00000433935.1	37	c.1644_1645insC	CCDS45584.1																																																																																				0.594	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		8	355						8	355	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:4884523_4884524insC	ENST00000348066.3	-	8	819_820	c.696_697insG	c.(694-699)gggcttfs	p.L233fs	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.L256fs|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.L232fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.L233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.L238fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.L235fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.55											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(691-696)ggttggfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884523_4884524insC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.697dupG	17.37:g.4884529_4884529dupC	ENSP00000321813:p.Leu233fs		Somatic	OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs	p.W232fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			7	1104_1105	-			233					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.693_694insG	CCDS11063.1																																																																																				0.550	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		8	682						8	682	---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6927857	6927858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:6927857_6927858insC	ENST00000293805.5	+	4	631_632	c.539_540insC	c.(538-543)ggccccfs	p.GP180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619																																						ENST00000293805.5																			1	Insertion - Frameshift(1)	p.S183fs*6(1)	lung(1)	skin(1)	1						c.(538-540)gccfs		B-cell CLL/lymphoma 6, member B																																				SO:0001589	frameshift_variant	255877					nucleus	zinc ion binding	g.chr17:6927857_6927858insC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.546dupC	17.37:g.6927864_6927864dupC	ENSP00000293805:p.Gly180fs		Somatic				BCL6B_ENST00000572216.1_3'UTR	p.A180fs	NM_181844.3	NP_862827.1	WXS	Illumina GAIIx	Phase_I	Q8N143	BCL6B_HUMAN			4	631_632	+			180			Pro-rich.		Q6PCB4	Frame_Shift_Ins	INS	ENST00000293805.5	37	c.539_540insC	CCDS42248.1																																																																																				0.619	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		10	126						10	126	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs		Somatic				C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs	p.A242fs			WXS	Illumina GAIIx	Phase_I	Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			27	456						27	456	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs		Somatic					p.GP328fs	NM_001406.3	NP_001397.1	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		12	258						12	258	---	---	---	---
UBBP4	23666	broad.mit.edu	37	17	21731488	21731489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:21731488_21731489insC	ENST00000578713.1	+	2	567_568	c.563_564insC	c.(562-567)atccccfs	p.IP188fs	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GAAGAAGGCATCCCCCCCGATC	0.535																																						ENST00000578713.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(562-564)accfs																																						SO:0001589	frameshift_variant	23666							g.chr17:21731488_21731489insC	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.570dupC	17.37:g.21731495_21731495dupC	ENSP00000464265:p.Ile188fs		Somatic				UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.T188fs			WXS	Illumina GAIIx	Phase_I					2	567_568	+									Frame_Shift_Ins	INS	ENST00000578713.1	37	c.563_564insC																																																																																					0.535	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	116						7	116	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs		Somatic				ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs|RP11-40A13.1_ENST00000584688.1_RNA	p.R264fs	NM_183377.1	NP_899233.1	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	296						7	296	---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36868997	36868998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:36868997_36868998insC	ENST00000325718.7	+	8	865_866	c.774_775insC	c.(775-777)cccfs	p.P259fs	CTB-58E17.9_ENST00000579499.1_RNA|MLLT6_ENST00000378137.5_Frame_Shift_Ins_p.P259fs	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	259					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCTGAGTCGCCCCCCAGCAT	0.614			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(772-777)tcccccfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6																																				SO:0001589	frameshift_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36868997_36868998insC		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.780dupC	17.37:g.36869003_36869003dupC	ENSP00000316426:p.Pro259fs		Somatic				MLLT6_ENST00000378137.5_Frame_Shift_Ins_p.SP258fs	p.SP258fs	NM_005937.3	NP_005928.2	WXS	Illumina GAIIx	Phase_I	P55198	AF17_HUMAN			8	865_866	+	Breast(7;4.43e-21)		258					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Ins	INS	ENST00000325718.7	37	c.774_775insC	CCDS11327.1																																																																																				0.614	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		7	318						7	318	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)gggtctfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(640-645)ggctcgfs		potassium voltage-gated channel, subfamily H (eag-related), member 4																																				SO:0001589	frameshift_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328258_40328259insC	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.643dupG	17.37:g.40328265_40328265dupC	ENSP00000264661:p.Ser215fs		Somatic				KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	p.S215fs	NM_012285.2	NP_036417.1	WXS	Illumina GAIIx	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	974_975	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	215						Frame_Shift_Ins	INS	ENST00000264661.3	37	c.642_643insG	CCDS11420.1																																																																																				0.604	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		15	515						15	515	---	---	---	---
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)cccgacfs	p.D729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.D729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619																																						ENST00000007414.3																			1	Insertion - Frameshift(1)	p.D729fs*3(1)	lung(1)	autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2182-2187)ccaccafs		oxysterol binding protein-like 7																																				SO:0001589	frameshift_variant	114881				lipid transport		lipid binding	g.chr17:45886342_45886343insG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2185dupC	17.37:g.45886348_45886348dupG	ENSP00000007414:p.Asp729fs		Somatic				OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	p.P729fs	NM_145798.2	NP_665741.1	WXS	Illumina GAIIx	Phase_I	Q9BZF2	OSBL7_HUMAN			21	2375_2376	-			729					D3DTT6|Q6PIV6	Frame_Shift_Ins	INS	ENST00000007414.3	37	c.2184_2185insC	CCDS11515.1																																																																																				0.619	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		12	474						12	474	---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46262152	46262153	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:46262152_46262153insG	ENST00000336915.6	-	7	568_569	c.499_500insC	c.(499-501)cacfs	p.H167fs	RP11-456D7.1_ENST00000582246.1_RNA|SKAP1_ENST00000584924.1_Frame_Shift_Ins_p.H167fs	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	167	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCTTCGCAGGTGGGGGGCCATC	0.53																																						ENST00000336915.6																			0				large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						c.(499-501)cctfs		src kinase associated phosphoprotein 1																																				SO:0001589	frameshift_variant	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46262152_46262153insG	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.500dupC	17.37:g.46262158_46262158dupG	ENSP00000338171:p.His167fs		Somatic				SKAP1_ENST00000584924.1_Frame_Shift_Ins_p.P167fs	p.P167fs	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	WXS	Illumina GAIIx	Phase_I	Q86WV1	SKAP1_HUMAN			7	568_569	-			167			PH.		D3DTV1|O15268	Frame_Shift_Ins	INS	ENST00000336915.6	37	c.499_500insC	CCDS32674.1																																																																																				0.530	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		10	570						10	570	---	---	---	---
ABCC3	8714	broad.mit.edu	37	17	48746263	48746264	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:48746263_48746264insC	ENST00000285238.8	+	15	2000_2001	c.1920_1921insC	c.(1921-1923)cccfs	p.P641fs		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	641	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCCAGGACCTGCCCCCCACTCT	0.609																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1918-1923)ctccccfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48746263_48746264insC	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1926dupC	17.37:g.48746269_48746269dupC	ENSP00000285238:p.Pro641fs		Somatic					p.LP640fs	NM_003786.3	NP_003777.2	WXS	Illumina GAIIx	Phase_I	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		15	2000_2001	+			640			ABC transporter 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Frame_Shift_Ins	INS	ENST00000285238.8	37	c.1920_1921insC	CCDS32681.1																																																																																				0.609	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		7	208						7	208	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs		Somatic				CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		20	1047						20	1047	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs		Somatic				MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	WXS	Illumina GAIIx	Phase_I	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		7	163						7	163	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C	rs267606674		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:63532584_63532585insC	ENST00000375702.5	-	6	1907_1908	c.1799_1800insG	c.(1798-1800)ggcfs	p.G600fs	AXIN2_ENST00000307078.5_Frame_Shift_Ins_p.G665fs			Q9Y2T1	AXIN2_HUMAN	axin 2	640				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34	GRCh37	CI002733	AXIN2	I		c.(1993-1995)gaafs		axin 2																																				SO:0001589	frameshift_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532584_63532585insC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1800dupG	17.37:g.63532591_63532591dupC	ENSP00000364854:p.Gly600fs		Somatic				AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	p.E665fs	NM_004655.3	NP_004646.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			8	2307_2308	-			665					Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Ins	INS	ENST00000375702.5	37	c.1994_1995insG																																																																																					0.658	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		7	60						7	60	---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9516929	9516929	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:9516929delG	ENST00000019317.4	+	3	554	c.331delG	c.(331-333)gttfs	p.V111fs	RALBP1_ENST00000383432.3_Frame_Shift_Del_p.V111fs|RP11-61L19.3_ENST00000609094.1_RNA|RNU2-27P_ENST00000516185.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	111					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GGGAATCCATGTTTTCAAGAA	0.383																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(331-333)ttfs		ralA binding protein 1							51.0	53.0	52.0					18																	9516929		2203	4300	6503	SO:0001589	frameshift_variant	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9516929delG	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.331delG	18.37:g.9516929delG	ENSP00000019317:p.Val111fs		Somatic				RALBP1_ENST00000383432.3_Frame_Shift_Del_p.V111fs	p.V111fs			WXS	Illumina GAIIx	Phase_I	Q15311	RBP1_HUMAN			3	554	+			111					D3DUI0	Frame_Shift_Del	DEL	ENST00000019317.4	37	c.331delG	CCDS11845.1																																																																																				0.383	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		20	61						20	61	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19996490	19996491	+	5'Flank	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:19996490_19996491insT	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Frame_Shift_Ins_p.A429fs			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTATCATGTGCTTTTTTCTCAT	0.351																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1282-1287)aacacafs		cutaneous T-cell lymphoma-associated antigen 1																																				SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996490_19996491insT	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996496_19996496dupT	Exception_encountered		Somatic					p.NT428fs	NM_172241.2	NP_758441.2	WXS	Illumina GAIIx	Phase_I	Q96RT6	CTGE2_HUMAN			1	1387_1388	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		428					B0YIZ3	Frame_Shift_Ins	INS	ENST00000525417.1	37	c.1284_1285insA																																																																																					0.351	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		22	49						22	49	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaaagfs	p.K523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.52											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1564-1569)ggaggafs		alpha-kinase 2																																				SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246441_56246442insC	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1566_1567insG	18.37:g.56246441_56246442insC	ENSP00000354991:p.Lys523fs		Somatic	OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.G523fs	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			4	1779_1780	-			523					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Ins	INS	ENST00000361673.3	37	c.1566_1567insG	CCDS11966.2																																																																																				0.520	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		14	542						14	542	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs		Somatic					p.V891fs	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		20	342						20	342	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs		Somatic					p.S7713fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	351						9	351	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs		Somatic				DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		11	178						11	178	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1504-1509)ccgctafs		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)																																			SO:0001589	frameshift_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488680_11488681insG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1507dupC	19.37:g.11488686_11488686dupG	ENSP00000222139:p.Ser503fs		Somatic	OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.L503fs	NM_000121.3	NP_000112.1	WXS	Illumina GAIIx	Phase_I	P19235	EPOR_HUMAN			8	1610_1611	-			503					B2RCG4|Q15443|Q2M205	Frame_Shift_Ins	INS	ENST00000222139.6	37	c.1506_1507insC	CCDS12260.1																																																																																				0.569	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			9	1147						9	1147	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T	rs375738139		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:12155708_12155709insT	ENST00000547628.1	-	4	644_645	c.507_508insA	c.(505-510)aaacccfs	p.P170fs	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P217fs	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(646-651)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155708_12155709insT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.508dupA	19.37:g.12155715_12155715dupT	ENSP00000447931:p.Pro170fs		Somatic				CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs	p.NL216fs			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	647_648	-			169						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.648_649insA	CCDS45984.2																																																																																				0.411	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		8	449						8	449	---	---	---	---
ASNA1	439	broad.mit.edu	37	19	12858847	12858848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:12858847_12858848insG	ENST00000591090.1	+	8	1078_1079	c.976_977insG	c.(976-978)cggfs	p.R326fs	ASNA1_ENST00000357332.3_Frame_Shift_Ins_p.R326fs					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CCATGAGGTGCGGGGGGCAGAC	0.624																																						ENST00000591090.1																			0				endometrium(1)|lung(6)|ovary(3)	10						c.(976-978)gggfs		arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12858847_12858848insG	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.982dupG	19.37:g.12858853_12858853dupG	ENSP00000466379:p.Arg326fs		Somatic				ASNA1_ENST00000357332.3_Frame_Shift_Ins_p.G326fs	p.G326fs			WXS	Illumina GAIIx	Phase_I	O43681	ASNA_HUMAN			8	1078_1079	+			326						Frame_Shift_Ins	INS	ENST00000591090.1	37	c.976_977insG	CCDS32920.1																																																																																				0.624	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1	NM_004317		8	287						8	287	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gggfs	p.G139fs	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.G90fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-417)gctfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275654_16275655insT	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.416_417insA	19.37:g.16275654_16275655insT	ENSP00000269878:p.Gly139fs		Somatic				CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs	p.A139fs	NM_054113.2	NP_473454.1	WXS	Illumina GAIIx	Phase_I	Q96Q77	CIB3_HUMAN			5	465_466	-			139		G -> E (in dbSNP:rs6512087).			E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.416_417insA	CCDS12340.1																																																																																				0.569	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		9	321						9	321	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34824651	34824652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:34824651_34824652insC	ENST00000299505.6	+	8	2179_2180	c.1306_1307insC	c.(1306-1308)gccfs	p.A436fs		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	436										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGAAGCCTATGCCCCCCAGATC	0.426																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(1306-1308)cccfs		KIAA0355																																				SO:0001589	frameshift_variant	9710							g.chr19:34824651_34824652insC		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1312dupC	19.37:g.34824657_34824657dupC	ENSP00000299505:p.Ala436fs		Somatic					p.P436fs	NM_014686.3	NP_055501.2	WXS	Illumina GAIIx	Phase_I	O15063	K0355_HUMAN			8	2179_2180	+	Esophageal squamous(110;0.162)		436					Q2M3W4	Frame_Shift_Ins	INS	ENST00000299505.6	37	c.1306_1307insC	CCDS12436.1																																																																																				0.426	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		8	162						8	162	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)cccaggfs	p.R158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.R91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(469-474)ccggcgfs		chromosome 19 open reading frame 47																																				SO:0001589	frameshift_variant	126526							g.chr19:40834398_40834399insG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.472dupC	19.37:g.40834404_40834404dupG	ENSP00000463159:p.Arg158fs		Somatic				C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	p.A158fs	NM_001256440.1	NP_001243369.1	WXS	Illumina GAIIx	Phase_I	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	483_484	-			158					Q8IZ33|Q8N0V9	Frame_Shift_Ins	INS	ENST00000582783.1	37	c.471_472insC	CCDS58662.1																																																																																				0.614	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		7	521						7	521	---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42525518	42525519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42525518_42525519insC	ENST00000262895.3	-	14	1804_1805	c.1805_1806insG	c.(1804-1806)ggcfs	p.G602fs	GRIK5_ENST00000593562.1_Frame_Shift_Ins_p.G602fs|GRIK5_ENST00000301218.4_Frame_Shift_Ins_p.G602fs	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	602					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GCTGCATGAAGCCCCCCACGGG	0.639																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1804-1806)gttfs		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42525518_42525519insC		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1806dupG	19.37:g.42525524_42525524dupC	ENSP00000262895:p.Gly602fs		Somatic				GRIK5_ENST00000301218.4_Frame_Shift_Ins_p.V602fs|GRIK5_ENST00000593562.1_Frame_Shift_Ins_p.V602fs	p.V602fs	NM_002088.4	NP_002079.3	WXS	Illumina GAIIx	Phase_I	Q16478	GRIK5_HUMAN			14	1804_1805	-		Prostate(69;0.059)	602					Q8WWG8	Frame_Shift_Ins	INS	ENST00000262895.3	37	c.1805_1806insG	CCDS12595.1																																																																																				0.639	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			7	200						7	200	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCCTTGATCTGGGGGGGAGAG	0.634																																						ENST00000560398.1																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)gatfs		POU class 2 homeobox 2																																				SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621520_42621521insG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.187-2->C	19.37:g.42621527_42621527dupG			Somatic				POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron	p.D84fs			WXS	Illumina GAIIx	Phase_I	P09086	PO2F2_HUMAN			5	257_258	-		Prostate(69;0.059)	62					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.250_251insC	CCDS56095.1																																																																																				0.634	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Intron	10	299						10	299	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	527	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		22	1043						22	1043	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs		Somatic				CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		14	284						14	284	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs		Somatic				NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	WXS	Illumina GAIIx	Phase_I	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		10	222						10	222	---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58452839	58452840	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:58452839_58452840delCT	ENST00000282308.3	-	3	1532_1533	c.1336_1337delAG	c.(1336-1338)aggfs	p.R446fs	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	446					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTCAAATTTCCTGCTAAATAAT	0.381																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1336-1338)gfs		zinc finger protein 256																																				SO:0001589	frameshift_variant	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452839_58452840delCT	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1336_1337delAG	19.37:g.58452839_58452840delCT	ENSP00000282308:p.Arg446fs		Somatic				ZNF256_ENST00000598928.1_3'UTR	p.R446fs	NM_005773.2	NP_005764.2	WXS	Illumina GAIIx	Phase_I	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1532_1533	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	446					B2RA92|Q53Y85|Q9BV71	Frame_Shift_Del	DEL	ENST00000282308.3	37	c.1336_1337delAG	CCDS12966.1																																																																																				0.381	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			8	177						8	177	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		Somatic				DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs	p.G451fs	NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		7	216						7	216	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs		Somatic					p.F103fs	NM_003064.2	NP_003055.1	WXS	Illumina GAIIx	Phase_I	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			18	335						18	335	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs		Somatic				SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			8	519						8	519	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs		Somatic					p.PK1092fs	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		15	608						15	608	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-681)agttttfs	p.SF226fs	PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.SF66fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.SF185fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.SF124fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.SF200fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.SF99fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.SF140fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.SF159fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.SF173fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.SF125fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.SF92fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.SF166fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000470987.1_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGTAAGTACAGTTTTTTGGATA	0.52																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(676-678)attfs		phosphodiesterase 9A																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44171249_44171250insT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.683dupT	21.37:g.44171255_44171255dupT	ENSP00000291539:p.Ser226fs		Somatic				PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs	p.I226fs	NM_002606.2	NP_002597.1	WXS	Illumina GAIIx	Phase_I	O76083	PDE9A_HUMAN			9	737_738	+			226					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.677_678insT	CCDS13690.1																																																																																				0.520	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			7	1150						7	1150	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G	rs587631627		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cgcfs	p.R67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(199-201)cacfs		thrombospondin-type laminin G domain and EAR repeats																																				SO:0001589	frameshift_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45987772_45987773insG	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.200dupC	21.37:g.45987778_45987778dupG	ENSP00000321987:p.Arg67fs		Somatic				TSPEAR_ENST00000397916.1_5'UTR	p.H67fs	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	WXS	Illumina GAIIx	Phase_I	Q8WU66	TSEAR_HUMAN			2	264_265	-			67						Frame_Shift_Ins	INS	ENST00000323084.4	37	c.199_200insC	CCDS13712.1																																																																																				0.564	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		7	210						7	210	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G	rs200634923	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)cccaaafs	p.K1463fs	AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.K1463fs|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4384-4389)ccaaatfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666704_47666705insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4387dupC	21.37:g.47666710_47666710dupG	ENSP00000380820:p.Lys1463fs		Somatic				MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs	p.N1463fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			22	4640_4641	-	Breast(49;0.112)		1463					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.4386_4387insC	CCDS13734.1																																																																																				0.609	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		7	703						7	703	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs|CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs		Somatic				CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	p.A797fs	NM_031413.3	NP_113601.2	WXS	Illumina GAIIx	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		8	247						8	247	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C	rs552962356		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1884)caccccfs	p.HP627fs	OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.HP260fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.HP626fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.HP369fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.HP171fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.HP461fs|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.HP578fs|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.HP454fs	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1879-1881)cccfs		oxysterol binding protein 2																																				SO:0001589	frameshift_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31289119_31289120insC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1887dupC	22.37:g.31289126_31289126dupC	ENSP00000332576:p.His627fs		Somatic				OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs	p.P627fs	NM_030758.3	NP_110385.1	WXS	Illumina GAIIx	Phase_I	Q969R2	OSBP2_HUMAN			9	1984_1985	+			627					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Frame_Shift_Ins	INS	ENST00000332585.6	37	c.1880_1881insC	CCDS43002.1																																																																																				0.594	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		7	136						7	136	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs		Somatic				DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		7	238						7	238	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2322					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6961-6966)caccccfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574678_41574679insC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6970dupC	22.37:g.41574685_41574685dupC	ENSP00000263253:p.Pro2322fs		Somatic				RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.HP2321fs	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			31	8182_8183	+			2321					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.6963_6964insC	CCDS14010.1																																																																																				0.609	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		8	157						8	157	---	---	---	---
CLCN4	1183	broad.mit.edu	37	X	10188762	10188763	+	Frame_Shift_Ins	INS	-	-	C	rs142375213		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:10188762_10188763insC	ENST00000380833.4	+	12	2428_2429	c.2037_2038insC	c.(2038-2040)cccfs	p.P680fs	CLCN4_ENST00000380829.1_Frame_Shift_Ins_p.P649fs|CLCN4_ENST00000421085.2_Frame_Shift_Ins_p.P586fs	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	680					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACGGAGGAACCCCCCGAGCT	0.564																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2035-2040)gaccccfs		chloride channel, voltage-sensitive 4																																				SO:0001589	frameshift_variant	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10188762_10188763insC	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2043dupC	X.37:g.10188768_10188768dupC	ENSP00000370213:p.Pro680fs		Somatic				CLCN4_ENST00000380829.1_Frame_Shift_Ins_p.DP648fs|CLCN4_ENST00000421085.2_Frame_Shift_Ins_p.DP585fs	p.DP679fs	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	WXS	Illumina GAIIx	Phase_I	P51793	CLCN4_HUMAN			12	2428_2429	+			679					A1L3U1|B7Z5Z4|Q9UBU1	Frame_Shift_Ins	INS	ENST00000380833.4	37	c.2037_2038insC	CCDS14137.1																																																																																				0.564	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			9	375						9	375	---	---	---	---
FIGF	2277	broad.mit.edu	37	X	15373323	15373324	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:15373323_15373324insG	ENST00000297904.3	-	4	1018_1019	c.589_590insC	c.(589-591)cgcfs	p.R197fs		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	197					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GTATGGATGGCGGGGGGCTGTT	0.406																																						ENST00000297904.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(589-591)ccafs		c-fos induced growth factor (vascular endothelial growth factor D)																																				SO:0001589	frameshift_variant	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15373323_15373324insG	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.590dupC	X.37:g.15373329_15373329dupG	ENSP00000297904:p.Arg197fs		Somatic					p.P197fs	NM_004469.4	NP_004460.1	WXS	Illumina GAIIx	Phase_I	O43915	VEGFD_HUMAN			4	1018_1019	-	Hepatocellular(33;0.183)		197					B2R7Z3	Frame_Shift_Ins	INS	ENST00000297904.3	37	c.589_590insC	CCDS14166.1																																																																																				0.406	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		7	365						7	365	---	---	---	---
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)tggfs	p.W133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.W133fs	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	87						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(397-399)gggfs		carbonic anhydrase VB, mitochondrial																																				SO:0001589	frameshift_variant	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15790675_15790676insG	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.403dupG	X.37:g.15790681_15790681dupG	ENSP00000314099:p.Trp133fs		Somatic				CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	p.G133fs	NM_007220.3	NP_009151.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D0	CAH5B_HUMAN			4	533_534	+	Hepatocellular(33;0.183)		133					A6NEZ4	Frame_Shift_Ins	INS	ENST00000318636.3	37	c.397_398insG	CCDS14171.1																																																																																				0.495	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		7	845						7	845	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18961909	18961920	+	In_Frame_Del	DEL	AATTGCCTCAAG	AATTGCCTCAAG	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:18961909_18961920delAATTGCCTCAAG	ENST00000379942.4	-	7	1290_1301	c.625_636delCTTGAGGCAATT	c.(625-636)cttgaggcaattdel	p.LEAI209del		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	209					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCAGTTCATCAATTGCCTCAAGAGCTGCCTAC	0.415																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(625-636)del		phosphorylase kinase, alpha 2 (liver)																																				SO:0001651	inframe_deletion	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18961909_18961920delAATTGCCTCAAG		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.625_636delCTTGAGGCAATT	X.37:g.18961909_18961920delAATTGCCTCAAG	ENSP00000369274:p.Leu209_Ile212del		Somatic					p.LEAI209del	NM_000292.2	NP_000283.1	WXS	Illumina GAIIx	Phase_I	P46019	KPB2_HUMAN			7	1290_1301	-	Hepatocellular(33;0.183)		209					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	In_Frame_Del	DEL	ENST00000379942.4	37	c.625_636delCTTGAGGCAATT	CCDS14190.1																																																																																				0.415	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		107	383						107	383	---	---	---	---
MED14	9282	broad.mit.edu	37	X	40531171	40531172	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:40531171_40531172insG	ENST00000324817.1	-	23	3192_3193	c.3074_3075insC	c.(3073-3075)cctfs	p.P1025fs		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1025	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATAAGATGTAGGGGGTGAAGT	0.411																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3073-3075)cacfs		mediator complex subunit 14																																				SO:0001589	frameshift_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40531171_40531172insG	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3075dupC	X.37:g.40531176_40531176dupG	ENSP00000323720:p.Pro1025fs		Somatic					p.H1025fs	NM_004229.3	NP_004220.2	WXS	Illumina GAIIx	Phase_I	O60244	MED14_HUMAN			23	3192_3193	-			1025			Pro-rich.		Q4KMR7|Q9UNB3	Frame_Shift_Ins	INS	ENST00000324817.1	37	c.3074_3075insC	CCDS14254.1																																																																																				0.411	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		9	1640						9	1640	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		10	1678						10	1678	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	p.R142fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		14	555						14	555	---	---	---	---
PRICKLE3	4007	broad.mit.edu	37	X	49032154	49032155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:49032154_49032155insG	ENST00000376317.3	-	9	1809_1810	c.1715_1716insC	c.(1714-1716)ccgfs	p.P572fs	PRICKLE3_ENST00000540849.1_Frame_Shift_Ins_p.P504fs|PRICKLE3_ENST00000536904.1_Frame_Shift_Ins_p.P491fs|PRICKLE3_ENST00000538114.1_Frame_Shift_Ins_p.P396fs	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	572							zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TGCACAAATGCGGGGGCAGAGG	0.589																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1714-1716)ccafs		prickle homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	4007						protein binding|zinc ion binding	g.chrX:49032154_49032155insG	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1716dupC	X.37:g.49032159_49032159dupG	ENSP00000365494:p.Pro572fs		Somatic				PRICKLE3_ENST00000538114.1_Frame_Shift_Ins_p.P396fs|PRICKLE3_ENST00000536904.1_Frame_Shift_Ins_p.P491fs|PRICKLE3_ENST00000540849.1_Frame_Shift_Ins_p.P504fs	p.P572fs	NM_006150.3	NP_006141.2	WXS	Illumina GAIIx	Phase_I	O43900	PRIC3_HUMAN			9	1809_1810	-			572					B7Z8F2|O76007|Q53XR5	Frame_Shift_Ins	INS	ENST00000376317.3	37	c.1715_1716insC	CCDS14320.1																																																																																				0.589	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		7	845						7	845	---	---	---	---
P2RY4	5030	broad.mit.edu	37	X	69478417	69478418	+	Frame_Shift_Ins	INS	-	-	G	rs149121464	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:69478417_69478418insG	ENST00000374519.2	-	1	1236_1237	c.1057_1058insC	c.(1057-1059)cagfs	p.Q353fs		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	353					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCTACTGTCCTGGGGGGTGGCC	0.629																																						ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(1057-1059)ggafs		pyrimidinergic receptor P2Y, G-protein coupled, 4																																				SO:0001589	frameshift_variant	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478417_69478418insG	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.1058dupC	X.37:g.69478423_69478423dupG	ENSP00000363643:p.Gln353fs		Somatic					p.G353fs	NM_002565.3	NP_002556.1	WXS	Illumina GAIIx	Phase_I	P51582	P2RY4_HUMAN			1	1236_1237	-			353					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Frame_Shift_Ins	INS	ENST00000374519.2	37	c.1057_1058insC	CCDS14398.1																																																																																				0.629	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		8	332						8	332	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70330448	70330449	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:70330448_70330449insT	ENST00000374202.2	-	3	450_451	c.359_360insA	c.(358-360)aagfs	p.K120fs	IL2RG_ENST00000456850.2_Intron|IL2RG_ENST00000374188.3_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	120					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGTGGATCTCCTTTTTTTGCAA	0.45									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	GRCh37	CI011685|CI972629	IL2RG	I		c.(358-360)agafs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70330448_70330449insT	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.360dupA	X.37:g.70330455_70330455dupT	ENSP00000363318:p.Lys120fs		Somatic				IL2RG_ENST00000456850.2_Intron	p.R120fs	NM_000206.2	NP_000197.1	WXS	Illumina GAIIx	Phase_I	P31785	IL2RG_HUMAN			3	450_451	-	Renal(35;0.156)		120					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.359_360insA	CCDS14406.1																																																																																				0.450	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			7	345						7	345	---	---	---	---
KLHL13	90293	broad.mit.edu	37	X	117033056	117033057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:117033056_117033057insC	ENST00000262820.3	-	7	2691_2692	c.1782_1783insG	c.(1780-1785)gggtatfs	p.Y595fs	KLHL13_ENST00000371876.1_Frame_Shift_Ins_p.Y544fs|KLHL13_ENST00000541812.1_Frame_Shift_Ins_p.Y579fs|KLHL13_ENST00000539496.1_Frame_Shift_Ins_p.Y598fs|KLHL13_ENST00000371878.1_Frame_Shift_Ins_p.Y544fs|KLHL13_ENST00000540167.1_Frame_Shift_Ins_p.Y579fs|KLHL13_ENST00000545703.1_Frame_Shift_Ins_p.Y553fs|KLHL13_ENST00000469946.1_Frame_Shift_Ins_p.Y544fs|KLHL13_ENST00000371882.1_Frame_Shift_Ins_p.Y544fs	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	595					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCCAAGAATACCCCCCAACCA	0.441																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1627-1632)ggattcfs		kelch-like family member 13																																				SO:0001589	frameshift_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033056_117033057insC	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1783dupG	X.37:g.117033062_117033062dupC	ENSP00000262820:p.Tyr595fs		Somatic				KLHL13_ENST00000545703.1_Frame_Shift_Ins_p.F553fs|KLHL13_ENST00000262820.3_Frame_Shift_Ins_p.F595fs|KLHL13_ENST00000371882.1_Frame_Shift_Ins_p.F544fs|KLHL13_ENST00000469946.1_Frame_Shift_Ins_p.F544fs|KLHL13_ENST00000541812.1_Frame_Shift_Ins_p.F579fs|KLHL13_ENST00000539496.1_Frame_Shift_Ins_p.F598fs|KLHL13_ENST00000371878.1_Frame_Shift_Ins_p.F544fs|KLHL13_ENST00000540167.1_Frame_Shift_Ins_p.F579fs	p.F544fs			WXS	Illumina GAIIx	Phase_I	Q9P2N7	KLH13_HUMAN			6	4050_4051	-			595					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Frame_Shift_Ins	INS	ENST00000262820.3	37	c.1629_1630insG	CCDS14571.1																																																																																				0.441	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		7	224						7	224	---	---	---	---
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)caafs	p.Q119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.53																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(355-357)aaafs		placenta-specific 1																																				SO:0001589	frameshift_variant	10761				placenta development	extracellular region		g.chrX:133700357_133700358insG	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.356dupC	X.37:g.133700363_133700363dupG	ENSP00000352173:p.Gln119fs		Somatic				PLAC1_ENST00000476971.1_5'UTR	p.K119fs	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	640_641	-	Acute lymphoblastic leukemia(192;0.000127)		119						Frame_Shift_Ins	INS	ENST00000359237.4	37	c.355_356insC	CCDS14642.1																																																																																				0.530	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		10	415						10	415	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44877877	44877887	+	Frame_Shift_Del	DEL	TGATGCTTCCA	TGATGCTTCCA	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:44877877_44877887delTGATGCTTCCA	ENST00000355387.2	+	2	558_568	c.108_118delTGATGCTTCCA	c.(106-120)cgtgatgcttccatcfs	p.DASI37fs	RNF220_ENST00000361799.2_Frame_Shift_Del_p.DASI37fs|RNF220_ENST00000372247.2_Frame_Shift_Del_p.DASI37fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	37					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AGGCCAGCCGTGATGCTTCCATCCCTTGTCA	0.545																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(106-120)cgtcfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44877877_44877887delTGATGCTTCCA	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.108_118delTGATGCTTCCA	1.37:g.44877877_44877887delTGATGCTTCCA	ENSP00000347548:p.Asp37fs		Somatic				RNF220_ENST00000361799.2_Frame_Shift_Del_p.RDASI36fs|RNF220_ENST00000372247.2_Frame_Shift_Del_p.RDASI36fs	p.RDASI36fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	558_568	+			36					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Del	DEL	ENST00000355387.2	37	c.108_118delTGATGCTTCCA	CCDS510.1																																																																																				0.545	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		27	524						27	524	---	---	---	---
ALG6	29929	broad.mit.edu	37	1	63902501	63902506	+	In_Frame_Del	DEL	TCTCAG	TCTCAG	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:63902501_63902506delTCTCAG	ENST00000371108.4	+	15	1639_1644	c.1334_1339delTCTCAG	c.(1333-1341)atctcagtc>atc	p.SV446del	ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_In_Frame_Del_p.SV448del	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	446					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTTTCTTATCTCAGTCATCACTAT	0.369																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1333-1341)atc>a		ALG6, alpha-1,3-glucosyltransferase																																				SO:0001651	inframe_deletion	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63902501_63902506delTCTCAG	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1334_1339delTCTCAG	1.37:g.63902501_63902506delTCTCAG	ENSP00000360149:p.Ser446_Val447del		Somatic				ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_In_Frame_Del_p.ISV447del	p.ISV445del	NM_013339.3	NP_037471.2	WXS	Illumina GAIIx	Phase_I	Q9Y672	ALG6_HUMAN			15	1639_1644	+			445					B3KMU2|Q5SXR9|Q9H3I0	In_Frame_Del	DEL	ENST00000371108.4	37	c.1334_1339delTCTCAG	CCDS30735.1																																																																																				0.369	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		82	294						82	294	---	---	---	---
CREB3L4	148327	broad.mit.edu	37	1	153941096	153941097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:153941096_153941097insC	ENST00000368607.3	+	2	361_362	c.95_96insC	c.(94-99)tgccccfs	p.CP32fs	CREB3L4_ENST00000405694.3_5'UTR|SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.CP32fs|CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.CP32fs|RP11-422P24.10_ENST00000608147.1_RNA	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	32					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGACTCCACTGCCCCCCTCCAG	0.614																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(94-96)tccfs		cAMP responsive element binding protein 3-like 4																																				SO:0001589	frameshift_variant	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941096_153941097insC	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.101dupC	1.37:g.153941102_153941102dupC	ENSP00000357596:p.Cys32fs		Somatic				CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.S32fs	p.S32fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	WXS	Illumina GAIIx	Phase_I	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	361_362	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		32					D3DV62|Q5T4L0|Q86YW6	Frame_Shift_Ins	INS	ENST00000368607.3	37	c.95_96insC	CCDS1056.1																																																																																				0.614	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		7	208						7	208	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152422253	152422254	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:152422253_152422254insA	ENST00000172853.10	-	87	13281_13282	c.13134_13135insT	c.(13132-13137)actaagfs	p.K4379fs	NEB_ENST00000604864.1_Frame_Shift_Ins_p.K6080fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.K4379fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.K6080fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.K6080fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.K6080fs			P20929	NEBU_HUMAN	nebulin	4379					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCTGGTTCTTAGTAACCCTTA	0.505																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18235-18240)acagaafs		nebulin																																				SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152422253_152422254insA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13135dupT	2.37:g.152422254_152422254dupA	ENSP00000172853:p.Lys4379fs		Somatic				NEB_ENST00000427231.2_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.E4379fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.E4379fs	p.E6080fs	NM_001164508.1	NP_001157980.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	115	18439_18440	-			6074					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.18237_18238insT																																																																																					0.505	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		16	59						16	59	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9974537	9974538	+	Frame_Shift_Ins	INS	-	-	G	rs574709557		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:9974537_9974538insG	ENST00000295981.3	+	18	1948_1949	c.1730_1731insG	c.(1729-1734)tcggggfs	p.SG577fs	CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Intron|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.SG474fs|CRELD1_ENST00000383811.3_5'Flank|RP11-1020A11.1_ENST00000602411.1_RNA|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.SG491fs|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.SG506fs	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	577					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.S577L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGTCCGCTCGGGGGGTGAGT	0.693											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295981.3																			1	Substitution - Missense(1)	p.S577L(1)	urinary_tract(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1729-1731)tggfs		interleukin 17 receptor C																																				SO:0001589	frameshift_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9974537_9974538insG	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1735dupG	3.37:g.9974543_9974543dupG	ENSP00000295981:p.Ser577fs		Somatic	OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	661	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.W506fs|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.W474fs|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.W491fs|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000416074.2_Intron	p.W577fs	NM_153461.3	NP_703191.1	WXS	Illumina GAIIx	Phase_I	Q8NAC3	I17RC_HUMAN			18	1948_1949	+			577					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Frame_Shift_Ins	INS	ENST00000295981.3	37	c.1730_1731insG	CCDS2590.1																																																																																				0.693	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		2	4						2	4	---	---	---	---
CX3CR1	1524	broad.mit.edu	37	3	39307167	39307167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:39307167delA	ENST00000541347.1	-	2	1073	c.834delT	c.(832-834)actfs	p.T278fs	CX3CR1_ENST00000542107.1_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000399220.2_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000358309.3_Frame_Shift_Del_p.T310fs	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	278					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAACCGTCTCAGTCACACTGA	0.473																																						ENST00000541347.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(832-834)acfs		chemokine (C-X3-C motif) receptor 1							136.0	134.0	135.0					3																	39307167		1954	4162	6116	SO:0001589	frameshift_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307167delA	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.834delT	3.37:g.39307167delA	ENSP00000439140:p.Thr278fs		Somatic				CX3CR1_ENST00000399220.2_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000358309.3_Frame_Shift_Del_p.T310fs|CX3CR1_ENST00000542107.1_Frame_Shift_Del_p.T278fs	p.T278fs	NM_001171171.1	NP_001164642.1	WXS	Illumina GAIIx	Phase_I	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	1073	-			278					A0N0N6|B2R5Z4|J3KP17	Frame_Shift_Del	DEL	ENST00000541347.1	37	c.834delT	CCDS43069.1																																																																																				0.473	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		42	345						42	345	---	---	---	---
RPL26L1	51121	broad.mit.edu	37	5	172386937	172386938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:172386937_172386938insC	ENST00000521476.1	+	2	185_186	c.61_62insC	c.(61-63)gccfs	p.A21fs	RPL26L1_ENST00000519974.1_Frame_Shift_Ins_p.A21fs|CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.1_ENST00000520067.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA|RPL26L1_ENST00000519239.1_Frame_Shift_Ins_p.A21fs|CTC-308K20.2_ENST00000519755.1_lincRNA|RPL26L1_ENST00000265100.2_Frame_Shift_Ins_p.A21fs			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	21					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTTCAATGCCCCCTCACAC	0.559																																						ENST00000521476.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(61-63)cccfs		ribosomal protein L26-like 1																																				SO:0001589	frameshift_variant	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172386937_172386938insC	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.66dupC	5.37:g.172386942_172386942dupC	ENSP00000428223:p.Ala21fs		Somatic				RPL26L1_ENST00000519974.1_Frame_Shift_Ins_p.P21fs|RPL26L1_ENST00000519239.1_Frame_Shift_Ins_p.P21fs|RPL26L1_ENST00000265100.2_Frame_Shift_Ins_p.P21fs	p.P21fs			WXS	Illumina GAIIx	Phase_I	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	185_186	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	21					B3KY82|D3DQM0	Frame_Shift_Ins	INS	ENST00000521476.1	37	c.61_62insC	CCDS4382.1																																																																																				0.559	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		9	1664						9	1664	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43415444	43415445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:43415444_43415445insG	ENST00000372530.4	+	18	3943_3944	c.3728_3729insG	c.(3727-3732)caggggfs	p.QG1243fs	ABCC10_ENST00000244533.3_Frame_Shift_Ins_p.QG1215fs	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1243					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGGCTGACCCAGGGGGGCGTGG	0.649																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3643-3645)cggfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 10																																				SO:0001589	frameshift_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415444_43415445insG	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3734dupG	6.37:g.43415450_43415450dupG	ENSP00000361608:p.Gln1243fs		Somatic				ABCC10_ENST00000372530.4_Frame_Shift_Ins_p.R1243fs	p.R1215fs	NM_033450.2	NP_258261.2	WXS	Illumina GAIIx	Phase_I	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4003_4004	+	all_lung(25;0.00536)		1243					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Frame_Shift_Ins	INS	ENST00000372530.4	37	c.3644_3645insG	CCDS56430.1																																																																																				0.649	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		7	419						7	419	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157522543	157522543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:157522543delG	ENST00000350026.5	+	17	4777	c.4776delG	c.(4774-4776)gagfs	p.E1592fs	ARID1B_ENST00000275248.4_Frame_Shift_Del_p.E1587fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.E1645fs|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.E1605fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1592	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAGAAGGGAGATCACCTTTC	0.512																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4813-4815)gafs		AT rich interactive domain 1B (SWI1-like)							119.0	114.0	116.0					6																	157522543		2203	4296	6499	SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522543delG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4776delG	6.37:g.157522543delG	ENSP00000055163:p.Glu1592fs		Somatic				ARID1B_ENST00000367148.1_Frame_Shift_Del_p.E1645fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.E1587fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.E1592fs	p.E1605fs	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4816	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1592					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.4815delG	CCDS5251.2																																																																																				0.512	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		55	161						55	161	---	---	---	---
TAGAP	117289	broad.mit.edu	37	6	159457430	159457430	+	Frame_Shift_Del	DEL	C	C	-	rs116639718	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:159457430delC	ENST00000367066.3	-	10	1956	c.1625delG	c.(1624-1626)ggtfs	p.G542fs	RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Frame_Shift_Del_p.G364fs|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	542					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTTTCTGACACCCCTCGGGAC	0.567																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1624-1626)gtfs		T-cell activation RhoGTPase activating protein							53.0	58.0	56.0					6																	159457430		2203	4300	6503	SO:0001589	frameshift_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457430delC	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1625delG	6.37:g.159457430delC	ENSP00000356033:p.Gly542fs		Somatic				RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Frame_Shift_Del_p.G364fs	p.G542fs	NM_054114.3	NP_473455.2	WXS	Illumina GAIIx	Phase_I	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	1956	-		Breast(66;0.000776)|Ovarian(120;0.0303)	542					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Frame_Shift_Del	DEL	ENST00000367066.3	37	c.1625delG	CCDS5261.1																																																																																				0.567	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		37	96						37	96	---	---	---	---
LINC00265	349114	broad.mit.edu	37	7	39803363	39803364	+	lincRNA	DEL	CT	CT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:39803363_39803364delCT	ENST00000340510.4	+	0	413					NR_026999.1				long intergenic non-protein coding RNA 265																		ccctccctccctctctctctcc	0.48																																						ENST00000340510.4																			0																																																			349114							g.chr7:39803363_39803364delCT			7p14.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000188185	ENSG00000188185		"""Long non-coding RNAs"""	28019	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 265-1"""		"""non-protein coding RNA 265"""	NCRNA00265		12477932	Standard	NR_026999		Approved	NCRNA00265-1	uc003thf.3		OTTHUMG00000155273		7.37:g.39803371_39803372delCT			Somatic						NR_026999.1		WXS	Illumina GAIIx	Phase_I					0	413	+									RNA	DEL	ENST00000340510.4	37																																																																																						0.480	LINC00265-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339278.1	NR_026999		2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						28558							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA			Somatic								WXS	Illumina GAIIx	Phase_I					0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		9	16						9	16	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145150875	145150876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr8:145150875_145150876insC	ENST00000318911.4	+	2	342_343	c.269_270insC	c.(268-273)caccccfs	p.HP90fs		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	90					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGAGCTGCACCCCCCCAGCT	0.668											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(268-270)cccfs		cytochrome c-1																																				SO:0001589	frameshift_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145150875_145150876insC	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.276dupC	8.37:g.145150882_145150882dupC	ENSP00000317159:p.His90fs		Somatic	OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.P90fs	NM_001916.3	NP_001907.2	WXS	Illumina GAIIx	Phase_I	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	342_343	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		90					Q5U062|Q6FHS7	Frame_Shift_Ins	INS	ENST00000318911.4	37	c.269_270insC	CCDS6415.1																																																																																				0.668	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		7	50						7	50	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630358	32630359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:32630358_32630359insC	ENST00000242310.4	-	1	5308_5309	c.5219_5220insG	c.(5218-5220)ggafs	p.G1740fs		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1740					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GATCACCATCTCCCCCTTCTGG	0.5																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(5218-5220)ggafs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like																																				SO:0001589	frameshift_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630358_32630359insC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5220dupG	9.37:g.32630363_32630363dupC	ENSP00000418379:p.Gly1740fs		Somatic					p.G1740fs	NM_153809.2	NP_722516.1	WXS	Illumina GAIIx	Phase_I	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5308_5309	-			1740					Q0VG57	Frame_Shift_Ins	INS	ENST00000242310.4	37	c.5219_5220insG	CCDS35003.1																																																																																				0.500	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			9	834						9	834	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98211548	98211549	+	Frame_Shift_Ins	INS	-	-	G	rs138240178	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:98211548_98211549insG	ENST00000331920.6	-	22	3905_3906	c.3606_3607insC	c.(3604-3609)cccagcfs	p.S1203fs	PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.S1052fs|PTCH1_ENST00000430669.2_Frame_Shift_Ins_p.S1137fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.S1052fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.S1137fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.S1202fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.S1052fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1203					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGGACCACGCTGGGGGGTGGCT	0.594																																						ENST00000430669.2																			3	Deletion - Frameshift(3)	p.S1203fs*52(2)|p.S1202fs*52(1)	large_intestine(3)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3406-3411)ccgcgtfs		patched 1																																				SO:0001589	frameshift_variant	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98211548_98211549insG	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3607dupC	9.37:g.98211554_98211554dupG	ENSP00000332353:p.Ser1203fs		Somatic				PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1137fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1202fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.R1203fs	p.R1137fs			WXS	Illumina GAIIx	Phase_I	Q13635	PTC1_HUMAN			22	3993_3994	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1203					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Ins	INS	ENST00000331920.6	37	c.3408_3409insC	CCDS6714.1																																																																																				0.594	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		2	4						2	4	---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96112093	96112093	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:96112093delA	ENST00000371361.3	-	8	1026	c.926delT	c.(925-927)ttgfs	p.L309fs	NOC3L_ENST00000371350.1_Frame_Shift_Del_p.L309fs|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Frame_Shift_Del_p.L47fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	309					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAGATTTTCCAAATAAAACTT	0.328																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(925-927)tgfs		nucleolar complex associated 3 homolog (S. cerevisiae)							84.0	87.0	86.0					10																	96112093		2202	4299	6501	SO:0001589	frameshift_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96112093delA	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.926delT	10.37:g.96112093delA	ENSP00000360412:p.Leu309fs		Somatic				NOC3L_ENST00000371350.1_Frame_Shift_Del_p.L309fs|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Frame_Shift_Del_p.L47fs	p.L309fs	NM_022451.9	NP_071896.8	WXS	Illumina GAIIx	Phase_I	Q8WTT2	NOC3L_HUMAN			8	1026	-		Colorectal(252;0.0897)	309					Q9H5M6|Q9H9D8	Frame_Shift_Del	DEL	ENST00000371361.3	37	c.926delT	CCDS7433.1																																																																																				0.328	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		9	20						9	20	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46246304	46246304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:46246304delT	ENST00000334344.6	+	15	4570	c.4398delT	c.(4396-4398)agtfs	p.S1466fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.S1317fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.S1076fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.S74fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1466					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACGCCCAAGTGTAGTTGTCT	0.443			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4396-4398)agfs		AT rich interactive domain 2 (ARID, RFX-like)							139.0	134.0	136.0					12																	46246304		2203	4300	6503	SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246304delT		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4398delT	12.37:g.46246304delT	ENSP00000335044:p.Ser1466fs		Somatic				ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.S1076fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.S74fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.S1317fs	p.S1466fs	NM_152641.2	NP_689854.2	WXS	Illumina GAIIx	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4570	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1466					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.4398delT	CCDS31783.1																																																																																				0.443	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		30	491						30	491	---	---	---	---
SUOX	6821	broad.mit.edu	37	12	56398690	56398693	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:56398690_56398693delTTGT	ENST00000394109.3	+	3	2241_2244	c.1517_1520delTTGT	c.(1516-1521)attgttfs	p.IV506fs	SUOX_ENST00000356124.4_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000548274.1_Frame_Shift_Del_p.IV506fs|IKZF4_ENST00000262032.5_5'Flank|SUOX_ENST00000266971.3_Frame_Shift_Del_p.IV506fs			P51687	SUOX_HUMAN	sulfite oxidase	506	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAACTGAACATTGTTTGTAAGGCT	0.559																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(1516-1521)atfs		sulfite oxidase																																				SO:0001589	frameshift_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398690_56398693delTTGT	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1517_1520delTTGT	12.37:g.56398694_56398697delTTGT	ENSP00000377668:p.Ile506fs		Somatic				SUOX_ENST00000356124.4_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000266971.3_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000548274.1_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.IV506fs	p.IV506fs			WXS	Illumina GAIIx	Phase_I	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	2241_2244	+			506			Molybdenum-pterin domain (By similarity).			Frame_Shift_Del	DEL	ENST00000394109.3	37	c.1517_1520delTTGT	CCDS8901.2																																																																																				0.559	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		9	565						9	565	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133226298	133226298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:133226298delT	ENST00000320574.5	-	30	3803	c.3760delA	c.(3760-3762)atcfs	p.I1254fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.I1227fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1254					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGCCCCAAGATTTCCTGCCAG	0.627								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3760-3762)tcfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							118.0	118.0	118.0					12																	133226298		2203	4300	6503	SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133226298delT		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3760delA	12.37:g.133226298delT	ENSP00000322570:p.Ile1254fs		Somatic				POLE_ENST00000535270.1_Frame_Shift_Del_p.I1227fs	p.I1254fs	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	30	3803	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1254					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.3760delA	CCDS9278.1																																																																																				0.627	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		148	305						148	305	---	---	---	---
CARS2	79587	broad.mit.edu	37	13	111335435	111335435	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr13:111335435delT	ENST00000257347.4	-	6	681	c.618delA	c.(616-618)aaafs	p.K206fs	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	206					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGCCGACCAATTTGCCATACT	0.522																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(616-618)aafs		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						123.0	121.0	121.0					13																	111335435		2203	4300	6503	SO:0001589	frameshift_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111335435delT	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.618delA	13.37:g.111335435delT	ENSP00000257347:p.Lys206fs		Somatic				CARS2_ENST00000535398.1_5'UTR	p.K206fs	NM_024537.2	NP_078813.1	WXS	Illumina GAIIx	Phase_I	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		6	681	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		206					Q8NI84|Q96IV4	Frame_Shift_Del	DEL	ENST00000257347.4	37	c.618delA	CCDS9514.1																																																																																				0.522	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		138	263						138	263	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3594163	3594163	+	RNA	DEL	A	A	-	rs60164526		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3																																						197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3594163delA	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3594163delA			Somatic				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA		NM_178844.2	NP_849172.2	WXS	Illumina GAIIx	Phase_I	Q7RTR2	NLRC3_HUMAN			0	3261	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	DEL	ENST00000301749.7	37																																																																																						0.488	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		2	4						2	4	---	---	---	---
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-	rs529995153	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr16:29110406delT	ENST00000564580.1	+	0	1098							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		TTAAAAAATCTTTTTTTTTTT	0.299													|||unknown(NO_COVERAGE)	393	0.0784744	0.1619	0.0403	5008	,	,		15270	0.0407		0.0278	False		,,,				2504	0.0838					ENST00000564580.1																			0																																																			653390							g.chr16:29110406delT			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110406delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	1098	+									RNA	DEL	ENST00000564580.1	37																																																																																						0.299	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	9						4	9	---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9516929	9516929	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr18:9516929delG	ENST00000019317.4	+	3	554	c.331delG	c.(331-333)gttfs	p.V111fs	RALBP1_ENST00000383432.3_Frame_Shift_Del_p.V111fs|RP11-61L19.3_ENST00000609094.1_RNA|RNU2-27P_ENST00000516185.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	111					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GGGAATCCATGTTTTCAAGAA	0.383																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(331-333)ttfs		ralA binding protein 1							51.0	53.0	52.0					18																	9516929		2203	4300	6503	SO:0001589	frameshift_variant	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9516929delG	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.331delG	18.37:g.9516929delG	ENSP00000019317:p.Val111fs		Somatic				RALBP1_ENST00000383432.3_Frame_Shift_Del_p.V111fs	p.V111fs			WXS	Illumina GAIIx	Phase_I	Q15311	RBP1_HUMAN			3	554	+			111					D3DUI0	Frame_Shift_Del	DEL	ENST00000019317.4	37	c.331delG	CCDS11845.1																																																																																				0.383	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		20	61						20	61	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19996490	19996491	+	5'Flank	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr18:19996490_19996491insT	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Frame_Shift_Ins_p.A429fs			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTATCATGTGCTTTTTTCTCAT	0.351																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1282-1287)aacacafs		cutaneous T-cell lymphoma-associated antigen 1																																				SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996490_19996491insT	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996496_19996496dupT	Exception_encountered		Somatic					p.NT428fs	NM_172241.2	NP_758441.2	WXS	Illumina GAIIx	Phase_I	Q96RT6	CTGE2_HUMAN			1	1387_1388	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		428					B0YIZ3	Frame_Shift_Ins	INS	ENST00000525417.1	37	c.1284_1285insA																																																																																					0.351	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		22	49						22	49	---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58452839	58452840	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:58452839_58452840delCT	ENST00000282308.3	-	3	1532_1533	c.1336_1337delAG	c.(1336-1338)aggfs	p.R446fs	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	446					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTCAAATTTCCTGCTAAATAAT	0.381																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1336-1338)gfs		zinc finger protein 256																																				SO:0001589	frameshift_variant	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452839_58452840delCT	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1336_1337delAG	19.37:g.58452839_58452840delCT	ENSP00000282308:p.Arg446fs		Somatic				ZNF256_ENST00000598928.1_3'UTR	p.R446fs	NM_005773.2	NP_005764.2	WXS	Illumina GAIIx	Phase_I	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1532_1533	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	446					B2RA92|Q53Y85|Q9BV71	Frame_Shift_Del	DEL	ENST00000282308.3	37	c.1336_1337delAG	CCDS12966.1																																																																																				0.381	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			8	177						8	177	---	---	---	---
PHKA2	5256	broad.mit.edu	37	X	18961909	18961920	+	In_Frame_Del	DEL	AATTGCCTCAAG	AATTGCCTCAAG	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:18961909_18961920delAATTGCCTCAAG	ENST00000379942.4	-	7	1290_1301	c.625_636delCTTGAGGCAATT	c.(625-636)cttgaggcaattdel	p.LEAI209del		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	209					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCAGTTCATCAATTGCCTCAAGAGCTGCCTAC	0.415																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(625-636)del		phosphorylase kinase, alpha 2 (liver)																																				SO:0001651	inframe_deletion	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18961909_18961920delAATTGCCTCAAG		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.625_636delCTTGAGGCAATT	X.37:g.18961909_18961920delAATTGCCTCAAG	ENSP00000369274:p.Leu209_Ile212del		Somatic					p.LEAI209del	NM_000292.2	NP_000283.1	WXS	Illumina GAIIx	Phase_I	P46019	KPB2_HUMAN			7	1290_1301	-	Hepatocellular(33;0.183)		209					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	In_Frame_Del	DEL	ENST00000379942.4	37	c.625_636delCTTGAGGCAATT	CCDS14190.1																																																																																				0.415	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		107	383						107	383	---	---	---	---
