#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
ACTRT2	140625	broad.mit.edu	37	1	2938408	2938410	+	In_Frame_Del	DEL	AGA	AGA	-	rs4013154|rs201580305	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:2938408_2938410delAGA	ENST00000378404.2	+	1	363_365	c.158_160delAGA	c.(157-162)cagaag>cag	p.K55del		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	55				Missing (in Ref. 5; AAH29499). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTACTT	0.611														563	0.11242	0.0106	0.2176	5008	,	,		17049	0.1925		0.1581	False		,,,				2504	0.046					ENST00000378404.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(157-162)cagaag>cag		actin-related protein T2				152,4114		9,134,1990						4.1	0.8		dbSNP_108	43	1412,6842		109,1194,2824	no	coding	ACTRT2	NM_080431.4		118,1328,4814	A1A1,A1R,RR		17.1069,3.5631,12.492				1564,10956				SO:0001651	inframe_deletion	140625					cytoplasm|cytoskeleton		g.chr1:2938408_2938410delAGA	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.158_160delAGA	1.37:g.2938411_2938413delAGA	ENSP00000367658:p.Lys55del	False	False		Somatic	2					p.K55del	NM_080431.4	NP_536356.3	WXS	Illumina HiSeq	Phase_I	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	363_365	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	55	Missing (in Ref. 5; AAH29499).				B1AN52|Q8NHS6|Q8TDG1	In_Frame_Del	DEL	ENST00000378404.2	37	c.158_160delAGA	CCDS45.1																																																																																				0.611	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	0	NM_080431		1:2938408
WDR47	22911	broad.mit.edu	37	1	109538340	109538341	+	Frame_Shift_Ins	INS	-	-	GAAATATTAACTTACTACTAATGGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:109538340_109538341insGAAATATTAACTTACTACTAATGGT	ENST00000369962.3	-	8	1774_1775	c.1552_1553insACCATTAGTAGTAAGTTAATATTTC	c.(1552-1554)actfs	p.T518fs	WDR47_ENST00000357672.3_Frame_Shift_Ins_p.T490fs|WDR47_ENST00000361054.3_Frame_Shift_Ins_p.T490fs|WDR47_ENST00000400794.3_Frame_Shift_Ins_p.T526fs|WDR47_ENST00000369965.4_Frame_Shift_Ins_p.T519fs			O94967	WDR47_HUMAN	WD repeat domain 47	518					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGTAAAACTAGTCACAGAAGAA	0.401																																						ENST00000369965.4		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1555-1557)actfs		WD repeat domain 47																																				SO:0001589	frameshift_variant	22911							g.chr1:109538340_109538341insGAAATATTAACTTACTACTAATGGT	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1552_1553insACCATTAGTAGTAAGTTAATATTTC	1.37:g.109538340_109538341insGAAATATTAACTTACTACTAATGGT	ENSP00000358979:p.Thr518fs	False	False		Somatic	0				WDR47_ENST00000400794.3_Frame_Shift_Ins_p.T526fs|WDR47_ENST00000369962.3_Frame_Shift_Ins_p.T518fs|WDR47_ENST00000361054.3_Frame_Shift_Ins_p.T490fs|WDR47_ENST00000357672.3_Frame_Shift_Ins_p.T490fs	p.T519fs	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	WXS	Illumina HiSeq	Phase_I	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	8	1815_1816	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	518					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Frame_Shift_Ins	INS	ENST00000369962.3	37	c.1555_1556insACCATTAGTAGTAAGTTAATATTTC	CCDS44187.1																																																																																				0.401	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	0	NM_014969		1:109538340
CHIA	27159	broad.mit.edu	37	1	111860714	111860715	+	Frame_Shift_Ins	INS	-	-	GTTTGAAGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:111860714_111860715insGTTTGAAGAT	ENST00000369740.1	+	8	815_816	c.712_713insGTTTGAAGAT	c.(712-714)aacfs	p.N238fs	CHIA_ENST00000451398.2_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000483391.1_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000430615.1_Frame_Shift_Ins_p.N130fs|CHIA_ENST00000353665.6_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000343320.6_Frame_Shift_Ins_p.N238fs|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	238					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CACCGGCAGCAACGCCTACCTC	0.51																																						ENST00000369740.1		NA																	0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(712-714)aacfs		chitinase, acidic																																				SO:0001589	frameshift_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111860714_111860715insGTTTGAAGAT	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	Exception_encountered	1.37:g.111860714_111860715insGTTTGAAGAT	ENSP00000358755:p.Asn238fs	False	False		Somatic	0				CHIA_ENST00000483391.1_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000353665.6_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000343320.6_Frame_Shift_Ins_p.N238fs|CHIA_ENST00000451398.2_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000430615.1_Frame_Shift_Ins_p.N130fs|RP5-1125M8.2_ENST00000426321.1_RNA	p.N238fs	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	WXS	Illumina HiSeq	Phase_I	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	8	815_816	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	238					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Frame_Shift_Ins	INS	ENST00000369740.1	37	c.712_713insGTTTGAAGAT	CCDS41368.1																																																																																				0.510	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1	0			1:111860714
ZNF438	220929	broad.mit.edu	37	10	31139086	31139087	+	In_Frame_Ins	INS	-	-	CTCCTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:31139086_31139087insCTCCTG	ENST00000361310.3	-	6	576_577	c.247_248insCAGGAG	c.(247-249)atg>aCAGGAGtg	p.83_83M>TGV	ZNF438_ENST00000413025.1_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000538351.2_In_Frame_Ins_p.34_34M>TGV|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000331737.6_In_Frame_Ins_p.73_73M>TGV|ZNF438_ENST00000444692.2_In_Frame_Ins_p.73_73M>TGV|ZNF438_ENST00000442986.1_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000436087.2_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000452305.1_In_Frame_Ins_p.73_73M>TGV			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	83					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGCAACCTGCATCAGGGCATAG	0.525																																						ENST00000331737.6		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(217-219)atg>aCAGGAGtg		zinc finger protein 438																																				SO:0001652	inframe_insertion	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31139086_31139087insCTCCTG	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.247_248insCAGGAG	10.37:g.31139086_31139087insCTCCTG	ENSP00000354663:p.Met83delinsThrGlyVal	False	False		Somatic	0				ZNF438_ENST00000452305.1_In_Frame_Ins_p.73_73M>TGV|ZNF438_ENST00000361310.3_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000442986.1_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000538351.1_In_Frame_Ins_p.34_34M>TGV|ZNF438_ENST00000413025.1_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000444692.2_In_Frame_Ins_p.73_73M>TGV|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_In_Frame_Ins_p.83_83M>TGV	p.73_73M>TGV	NM_001143771.1	NP_001137243.1	WXS	Illumina HiSeq	Phase_I	Q7Z4V0	ZN438_HUMAN			7	675_676	-		Prostate(175;0.0587)	83					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	In_Frame_Ins	INS	ENST00000361310.3	37	c.217_218insCAGGAG	CCDS7168.1																																																																																				0.525	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	0	NM_182755		10:31139086
CSTF2T	23283	broad.mit.edu	37	10	53457491	53457492	+	Frame_Shift_Ins	INS	-	-	TTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:53457491_53457492insTTTTT	ENST00000331173.4	-	1	1863_1864	c.1818_1819insAAAAA	c.(1816-1821)aaggaafs	p.E607fs	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	607					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TGGATTTGTTCCTTTAAAATCA	0.421																																						ENST00000331173.4		NA																	0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1816-1821)aaggaafs		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant																																				SO:0001589	frameshift_variant	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457491_53457492insTTTTT	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1818_1819insAAAAA	10.37:g.53457491_53457492insTTTTT	ENSP00000332444:p.Glu607fs	True	False		Somatic	0				PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	p.E607fs	NM_015235.2	NP_056050.1	WXS	Illumina HiSeq	Phase_I	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1863_1864	-			607					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Frame_Shift_Ins	INS	ENST00000331173.4	37	c.1818_1819insAAAAA	CCDS7245.1																																																																																				0.421	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	0	NM_015235		10:53457491
CSTF2T	23283	broad.mit.edu	37	10	53457492	53457493	+	Frame_Shift_Ins	INS	-	-	TTTCTTTCTGTTTTCCTTTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:53457492_53457493insTTTCTTTCTGTTTTCCTTTTTT	ENST00000331173.4	-	1	1862_1863	c.1817_1818insAAAAAAGGAAAACAGAAAGAAA	c.(1816-1818)aagfs	p.K606fs	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	606					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGATTTGTTCCTTTAAAATCAG	0.426																																						ENST00000331173.4		NA																	0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1816-1818)aagfs		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant																																				SO:0001589	frameshift_variant	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53457492_53457493insTTTCTTTCTGTTTTCCTTTTTT	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1817_1818insAAAAAAGGAAAACAGAAAGAAA	10.37:g.53457492_53457493insTTTCTTTCTGTTTTCCTTTTTT	ENSP00000332444:p.Lys606fs	True	False		Somatic	0				PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	p.K606fs	NM_015235.2	NP_056050.1	WXS	Illumina HiSeq	Phase_I	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1862_1863	-			606					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Frame_Shift_Ins	INS	ENST00000331173.4	37	c.1817_1818insAAAAAAGGAAAACAGAAAGAAA	CCDS7245.1																																																																																				0.426	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	0	NM_015235		10:53457492
BICC1	80114	broad.mit.edu	37	10	60560808	60560809	+	Splice_Site	INS	-	-	TGACAATTATCTGCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:60560808_60560809insTGACAATTATCTGCA	ENST00000373886.3	+	14	2019		c.e14+2		BICC1_ENST00000263103.1_Splice_Site	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACACTTACAGTATGTATTTTAA	0.366																																						ENST00000373886.3		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.e14+2		bicaudal C homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	80114				multicellular organismal development		RNA binding	g.chr10:60560808_60560809insTGACAATTATCTGCA	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2015+2->TGACAATTATCTGCA	10.37:g.60560808_60560809insTGACAATTATCTGCA		True	False		Somatic	0				BICC1_ENST00000263103.1_Splice_Site		NM_001080512.1	NP_001073981.1	WXS	Illumina HiSeq	Phase_I	Q9H694	BICC1_HUMAN			14	2019	+			NA						Splice_Site	INS	ENST00000373886.3	37		CCDS31206.1																																																																																				0.366	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	0	NM_025044	Intron	10:60560808
ANK3	288	broad.mit.edu	37	10	62149348	62149349	+	De_novo_Start_OutOfFrame	INS	-	-	TATGCCAGAGCAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:62149348_62149349insTATGCCAGAGCAT	ENST00000280772.2	-	0	139_140				ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAAAAGGTGATATCCTCAGG	0.406																																						ENST00000280772.1		NA																	0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196								ankyrin 3, node of Ranvier (ankyrin G)																																						288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62149348_62149349insTATGCCAGAGCAT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.-53->ATGCTCTGGCATA	10.37:g.62149348_62149349insTATGCCAGAGCAT		False	False		Somatic	0				ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron		NM_020987.3	NP_066267.2	WXS	Illumina HiSeq	Phase_I	Q12955	ANK3_HUMAN			0	139_140	-			NA					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Translation_Start_Site	INS	ENST00000280772.2	37		CCDS7258.1																																																																																				0.406	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	NM_020987		10:62149348
RTKN2	219790	broad.mit.edu	37	10	63976913	63976918	+	In_Frame_Del	DEL	AGCTTC	AGCTTC	-	rs115357868|rs201442319|rs149331212|rs59044276|rs76810894	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AGCTTC	AGCTTC	-	-	AGCTTC	AGCTTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:63976913_63976918delAGCTTC	ENST00000373789.3	-	9	1075_1080	c.979_984delGAAGCT	c.(979-984)gaagctdel	p.EA327del	RTKN2_ENST00000315289.2_In_Frame_Del_p.EA108del|RTKN2_ENST00000395265.1_In_Frame_Del_p.EA327del	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	327	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTCCACTTTAGCTTCAATTTCCTCT	0.354														704	0.140575	0.295	0.1066	5008	,	,		17288	0.005		0.16	False		,,,				2504	0.0757					ENST00000373789.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(979-984)gaagctdel		rhotekin 2				1087,3173		162,763,1205						6.0	1.0		dbSNP_129	131	1232,7022		103,1026,2998	no	coding	RTKN2	NM_145307.2		265,1789,4203	A1A1,A1R,RR		14.9261,25.5164,18.5312				2319,10195				SO:0001651	inframe_deletion	219790				signal transduction	intracellular		g.chr10:63976913_63976918delAGCTTC	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.979_984delGAAGCT	10.37:g.63976913_63976918delAGCTTC	ENSP00000362894:p.Glu327_Ala328del	False	False		Somatic	1				RTKN2_ENST00000395265.1_In_Frame_Del_p.EA327del|RTKN2_ENST00000315289.2_In_Frame_Del_p.EA108del	p.EA327del	NM_145307.2	NP_660350.2	WXS	Illumina HiSeq	Phase_I	Q8IZC4	RTKN2_HUMAN			9	1075_1080	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		327			PH.		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	In_Frame_Del	DEL	ENST00000373789.3	37	c.979_984delGAAGCT	CCDS7263.1																																																																																				0.354	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	0	NM_145307		10:63976913
CCAR1	55749	broad.mit.edu	37	10	70509434	70509435	+	Frame_Shift_Ins	INS	-	-	AAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:70509434_70509435insAAAA	ENST00000265872.6	+	10	1229_1230	c.1110_1111insAAAA	c.(1111-1113)ttafs	p.L371fs	CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.L356fs|CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.L356fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	371					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAAAGTTTTCTTTAGATTGGTA	0.396																																						ENST00000265872.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1111-1113)ttafs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509434_70509435insAAAA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	Exception_encountered	10.37:g.70509434_70509435insAAAA	ENSP00000265872:p.Leu371fs	True	False		Somatic	0				CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.L356fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.L356fs	p.L371fs	NM_018237.2	NP_060707.2	WXS	Illumina HiSeq	Phase_I	Q8IX12	CCAR1_HUMAN			10	1229_1230	+			371					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Ins	INS	ENST00000265872.6	37	c.1110_1111insAAAA	CCDS7282.1																																																																																				0.396	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	0	NM_018237		10:70509434
CCAR1	55749	broad.mit.edu	37	10	70509436	70509437	+	Frame_Shift_Ins	INS	-	-	ACTAATATTTCTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:70509436_70509437insACTAATATTTCTA	ENST00000265872.6	+	10	1231_1232	c.1112_1113insACTAATATTTCTA	c.(1111-1116)ttagatfs	p.D372fs	CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.D357fs|CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.D357fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	372					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AAGTTTTCTTTAGATTGGTAGG	0.396																																						ENST00000265872.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1111-1116)ttagatfs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509436_70509437insACTAATATTTCTA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	Exception_encountered	10.37:g.70509436_70509437insACTAATATTTCTA	ENSP00000265872:p.Asp372fs	True	False		Somatic	0				CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.D357fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.D357fs	p.D372fs	NM_018237.2	NP_060707.2	WXS	Illumina HiSeq	Phase_I	Q8IX12	CCAR1_HUMAN			10	1231_1232	+			372					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Ins	INS	ENST00000265872.6	37	c.1112_1113insACTAATATTTCTA	CCDS7282.1																																																																																				0.396	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	0	NM_018237		10:70509436
SORBS1	10580	broad.mit.edu	37	10	97117530	97117531	+	Frame_Shift_Ins	INS	-	-	CCCTATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:97117530_97117531insCCCTATT	ENST00000361941.3	-	21	2011_2012	c.1985_1986insAATAGGG	c.(1984-1986)aagfs	p.-662fs	SORBS1_ENST00000607232.1_Frame_Shift_Ins_p.-429fs|SORBS1_ENST00000371245.3_Frame_Shift_Ins_p.-513fs|SORBS1_ENST00000371241.1_Frame_Shift_Ins_p.-368fs|SORBS1_ENST00000306402.6_Frame_Shift_Ins_p.-409fs|SORBS1_ENST00000354106.3_Frame_Shift_Ins_p.-632fs|SORBS1_ENST00000393949.1_Frame_Shift_Ins_p.-632fs|SORBS1_ENST00000277982.5_Frame_Shift_Ins_p.-684fs|SORBS1_ENST00000371239.1_Frame_Shift_Ins_p.-439fs|SORBS1_ENST00000371249.2_Frame_Shift_Ins_p.-500fs|SORBS1_ENST00000371247.2_Frame_Shift_Ins_p.-662fs|SORBS1_ENST00000353505.5_Frame_Shift_Ins_p.-513fs|SORBS1_ENST00000371227.4_Frame_Shift_Ins_p.-616fs|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Frame_Shift_Ins_p.-684fs|SORBS1_ENST00000347291.4_Frame_Shift_Ins_p.-474fs	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGATTCCCTCTTCACTGCATG	0.406																																						ENST00000371227.4		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1846-1848)aagfs		sorbin and SH3 domain containing 1																																				SO:0001589	frameshift_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97117530_97117531insCCCTATT	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1985_1986insAATAGGG	10.37:g.97117530_97117531insCCCTATT	ENSP00000355136:p.Lys662fs	False	False		Somatic	0				SORBS1_ENST00000354106.3_Frame_Shift_Ins_p.-632fs|SORBS1_ENST00000371241.1_Frame_Shift_Ins_p.-368fs|SORBS1_ENST00000361941.3_Frame_Shift_Ins_p.-662fs|SORBS1_ENST00000371247.2_Frame_Shift_Ins_p.-662fs|SORBS1_ENST00000277982.5_Frame_Shift_Ins_p.-684fs|SORBS1_ENST00000607232.1_Frame_Shift_Ins_p.-429fs|SORBS1_ENST00000393949.1_Frame_Shift_Ins_p.-632fs|SORBS1_ENST00000306402.6_Frame_Shift_Ins_p.-409fs|SORBS1_ENST00000371249.2_Frame_Shift_Ins_p.-500fs|SORBS1_ENST00000347291.4_Frame_Shift_Ins_p.-474fs|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000353505.5_Frame_Shift_Ins_p.-513fs|SORBS1_ENST00000371246.2_Frame_Shift_Ins_p.-684fs|SORBS1_ENST00000371239.1_Frame_Shift_Ins_p.-439fs|SORBS1_ENST00000371245.3_Frame_Shift_Ins_p.-513fs	p.-616fs			WXS	Illumina HiSeq	Phase_I	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	21	2036_2037	-		Colorectal(252;0.0429)	NA						Frame_Shift_Ins	INS	ENST00000361941.3	37	c.1847_1848insAATAGGG	CCDS31255.1																																																																																				0.406	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1	0			10:97117530
PDZD8	118987	broad.mit.edu	37	10	119043489	119043490	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:119043489_119043490insTC	ENST00000334464.5	-	5	2993_2994	c.2754_2755insGA	c.(2752-2757)cctcgtfs	p.R919fs	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	919					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCATCAACACGAGGAGGCAGGC	0.431																																						ENST00000334464.5		NA																	0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2752-2757)cctcgtfs		PDZ domain containing 8																																				SO:0001589	frameshift_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119043489_119043490insTC	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2754_2755insGA	10.37:g.119043489_119043490insTC	ENSP00000334642:p.Arg919fs	False	False		Somatic	0					p.R919fs	NM_173791.3	NP_776152.1	WXS	Illumina HiSeq	Phase_I	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2993_2994	-		Colorectal(252;0.19)	919					Q86WE0|Q86WE5|Q9UFF1	Frame_Shift_Ins	INS	ENST00000334464.5	37	c.2754_2755insGA	CCDS7600.1																																																																																				0.431	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	0	NM_173791		10:119043489
PDZD8	118987	broad.mit.edu	37	10	119043491	119043492	+	Frame_Shift_Ins	INS	-	-	ACAAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:119043491_119043492insACAAC	ENST00000334464.5	-	5	2991_2992	c.2752_2753insGTTGT	c.(2752-2754)cctfs	p.P918fs	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	918					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ATCAACACGAGGAGGCAGGCCT	0.431																																						ENST00000334464.5		NA																	0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2752-2754)cctfs		PDZ domain containing 8																																				SO:0001589	frameshift_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119043491_119043492insACAAC	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2752_2753insGTTGT	10.37:g.119043491_119043492insACAAC	ENSP00000334642:p.Pro918fs	True	False		Somatic	0					p.P918fs	NM_173791.3	NP_776152.1	WXS	Illumina HiSeq	Phase_I	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2991_2992	-		Colorectal(252;0.19)	918					Q86WE0|Q86WE5|Q9UFF1	Frame_Shift_Ins	INS	ENST00000334464.5	37	c.2752_2753insGTTGT	CCDS7600.1																																																																																				0.431	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	0	NM_173791		10:119043491
CDHR5	53841	broad.mit.edu	37	11	619121	619122	+	In_Frame_Ins	INS	-	-	TCAGCCGAT	rs552414008|rs532470231		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:619121_619122insTCAGCCGAT	ENST00000358353.3	-	14	1759_1760	c.1437_1438insATCGGCTGA	c.(1435-1440)tccgag>tccATCGGCTGAgag	p.479_480SE>SIG*E	CDHR5_ENST00000397542.2_In_Frame_Ins_p.479_480SE>SIG*E|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	479					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTGGGGACCTCGGAAGTGGTGC	0.688																																						ENST00000358353.3		NA																	0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1435-1440)tccgag>tccATCGGCTGAgag		cadherin-related family member 5																																				SO:0001652	inframe_insertion	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:619121_619122insTCAGCCGAT	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1437_1438insATCGGCTGA	11.37:g.619121_619122insTCAGCCGAT	ENSP00000351118:p.Ser479_Glu480insIleGly*	False	False		Somatic	0				CDHR5_ENST00000397542.2_In_Frame_Ins_p.479_480SE>SIG*E|CDHR5_ENST00000349570.7_Intron	p.479_480SE>SIG*E			WXS	Illumina HiSeq	Phase_I	Q9HBB8	CDHR5_HUMAN			14	1759_1760	-			479					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	In_Frame_Ins	INS	ENST00000358353.3	37	c.1437_1438insATCGGCTGA	CCDS7707.1																																																																																				0.688	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	0	NM_021924		11:619121
TRIM22	10346	broad.mit.edu	37	11	5729472	5729473	+	Frame_Shift_Ins	INS	-	-	TACTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:5729472_5729473insTACTT	ENST00000379965.3	+	6	1120_1121	c.843_844insTACTT	c.(844-846)gatfs	p.D282fs	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	282					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCCGAGTACCAGATCTGAGTGG	0.426																																					GBM(104;491 2336 5222)	ENST00000379965.3		NA																	0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(844-846)gatfs		tripartite motif containing 22																																				SO:0001589	frameshift_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5729472_5729473insTACTT	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	Exception_encountered	11.37:g.5729472_5729473insTACTT	ENSP00000369299:p.Asp282fs	False	False		Somatic	0				TRIM5_ENST00000380027.1_Intron	p.D282fs	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	WXS	Illumina HiSeq	Phase_I	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	6	1120_1121	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	282					Q05CQ0|Q15521	Frame_Shift_Ins	INS	ENST00000379965.3	37	c.843_844insTACTT	CCDS41612.1																																																																																				0.426	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	0	NM_006074		11:5729472
SMPD1	6609	broad.mit.edu	37	11	6412799	6412800	+	Frame_Shift_Ins	INS	-	-	CCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:6412799_6412800insCCTC	ENST00000342245.4	+	2	672_673	c.504_505insCCTC	c.(505-507)cacfs	p.H169fs	SMPD1_ENST00000527275.1_Frame_Shift_Ins_p.H168fs|SMPD1_ENST00000356761.2_Frame_Shift_Ins_p.H169fs|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Frame_Shift_Ins_p.H169fs	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	167	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	CCACCTGTGGGCACTGGGACAT	0.619																																						ENST00000342245.4		NA																	0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(505-507)cacfs		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)																																			SO:0001589	frameshift_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412799_6412800insCCTC	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	Exception_encountered	11.37:g.6412799_6412800insCCTC	ENSP00000340409:p.His169fs	True	False		Somatic	0				SMPD1_ENST00000356761.2_Frame_Shift_Ins_p.H169fs|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Frame_Shift_Ins_p.H169fs|SMPD1_ENST00000527275.1_Frame_Shift_Ins_p.H168fs	p.H169fs	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	WXS	Illumina HiSeq	Phase_I	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	672_673	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	167			Saposin B-type.		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Frame_Shift_Ins	INS	ENST00000342245.4	37	c.504_505insCCTC	CCDS44531.1																																																																																				0.619	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	0	NM_000543		11:6412799
FAR1	84188	broad.mit.edu	37	11	13732418	13732419	+	Splice_Site	INS	-	-	ATATTTTACTATAAAATAAAAAGCTACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:13732418_13732419insATATTTTACTATAAAATAAAAAGCTACT	ENST00000354817.3	+	5	867		c.e5+1		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1						cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ACCTTTTCCAGTAAGTTGTTAG	0.351																																						ENST00000354817.3		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.e5+1		fatty acyl CoA reductase 1																																				SO:0001630	splice_region_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13732418_13732419insATATTTTACTATAAAATAAAAAGCTACT	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.723+1->ATATTTTACTATAAAATAAAAAGCTACT	11.37:g.13732418_13732419insATATTTTACTATAAAATAAAAAGCTACT		False	False		Somatic	0				FAR1_ENST00000527202.1_Splice_Site		NM_032228.5	NP_115604.1	WXS	Illumina HiSeq	Phase_I	Q8WVX9	FACR1_HUMAN			5	867	+			NA					D3DQW8|Q5CZA3	Splice_Site	INS	ENST00000354817.3	37		CCDS7813.1																																																																																				0.351	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	0	NM_032228	Intron	11:13732418
LDHAL6A	160287	broad.mit.edu	37	11	18485613	18485614	+	Frame_Shift_Ins	INS	-	-	GTGATCTATGTCTAGCTTGTGAATTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:18485613_18485614insGTGATCTATGTCTAGCTTGTGAATTA	ENST00000280706.2	+	2	1029_1030	c.232_233insGTGATCTATGTCTAGCTTGTGAATTA	c.(232-234)gtcfs	p.V78fs	LDHAL6A_ENST00000396213.3_Frame_Shift_Ins_p.V78fs	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	78					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GCCAAATATTGTCTCCAGCAAA	0.351																																						ENST00000280706.2		NA																	0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(232-234)gtcfs		lactate dehydrogenase A-like 6A	NADH(DB00157)																																			SO:0001589	frameshift_variant	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18485613_18485614insGTGATCTATGTCTAGCTTGTGAATTA	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	Exception_encountered	11.37:g.18485613_18485614insGTGATCTATGTCTAGCTTGTGAATTA	ENSP00000280706:p.Val78fs	False	False		Somatic	0				LDHAL6A_ENST00000396213.3_Frame_Shift_Ins_p.V78fs	p.V78fs	NM_144972.4	NP_659409.2	WXS	Illumina HiSeq	Phase_I	Q6ZMR3	LDH6A_HUMAN			2	1029_1030	+			78					D3DQY5	Frame_Shift_Ins	INS	ENST00000280706.2	37	c.232_233insGTGATCTATGTCTAGCTTGTGAATTA	CCDS7841.1																																																																																				0.351	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	0	NM_144972		11:18485613
LUZP2	338645	broad.mit.edu	37	11	25004806	25004807	+	Frame_Shift_Ins	INS	-	-	TAATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:25004806_25004807insTAATT	ENST00000336930.6	+	9	798_799	c.732_733insTAATT	c.(733-735)tctfs	p.S245fs	LUZP2_ENST00000533227.1_Frame_Shift_Ins_p.S159fs			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	245						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGAATATTGCCTCTAAGCTTCC	0.441																																						ENST00000533227.1		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(475-477)tctfs		leucine zipper protein 2																																				SO:0001589	frameshift_variant	338645					extracellular region		g.chr11:25004806_25004807insTAATT	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	Exception_encountered	11.37:g.25004806_25004807insTAATT	ENSP00000336817:p.Ser245fs	False	False		Somatic	0				LUZP2_ENST00000336930.6_Frame_Shift_Ins_p.S245fs	p.S159fs	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	WXS	Illumina HiSeq	Phase_I	Q86TE4	LUZP2_HUMAN			9	761_762	+			245					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Frame_Shift_Ins	INS	ENST00000336930.6	37	c.474_475insTAATT	CCDS31446.1																																																																																				0.441	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	0	NM_001009909		11:25004806
LGR4	55366	broad.mit.edu	37	11	27407010	27407011	+	In_Frame_Ins	INS	-	-	TCCCTTTTAATTCCATAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:27407010_27407011insTCCCTTTTAATTCCATAT	ENST00000379214.4	-	5	849_850	c.406_407insATATGGAATTAAAAGGGA	c.(406-408)tta>tATATGGAATTAAAAGGGAta	p.136_136L>YMELKGI	LGR4_ENST00000389858.4_In_Frame_Ins_p.112_112L>YMELKGI|LGR4_ENST00000480977.2_In_Frame_Ins_p.88_88L>YMELKGI	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	136					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GTTGGCATCTAAACGCCTAACA	0.426																																						ENST00000480977.2		NA																	0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(262-264)tta>tATATGGAATTAAAAGGGAta		leucine-rich repeat containing G protein-coupled receptor 4																																				SO:0001652	inframe_insertion	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27407010_27407011insTCCCTTTTAATTCCATAT	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.406_407insATATGGAATTAAAAGGGA	11.37:g.27407010_27407011insTCCCTTTTAATTCCATAT	ENSP00000368516:p.Leu136delinsTyrMetGluLeuLysGlyIle	True	False		Somatic	0				LGR4_ENST00000379214.4_In_Frame_Ins_p.136_136L>YMELKGI|LGR4_ENST00000389858.4_In_Frame_Ins_p.112_112L>YMELKGI	p.88_88L>YMELKGI			WXS	Illumina HiSeq	Phase_I	Q9BXB1	LGR4_HUMAN			3	273_274	-			88					A6NCH3|G5E9B3|Q8N537|Q9NYD1	In_Frame_Ins	INS	ENST00000379214.4	37	c.262_263insATATGGAATTAAAAGGGA	CCDS31449.1																																																																																				0.426	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	0	NM_018490		11:27407010
SYCP1	6847	broad.mit.edu	37	1	115401257	115401258	+	Frame_Shift_Ins	INS	-	-	AAAATATCCAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:115401257_115401258insAAAATATCCAT	ENST00000369522.3	+	6	621_622	c.381_382insAAAATATCCAT	c.(382-384)agafs	p.R128fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.R128fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	128					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AAGCTGAACTGAGACAGAAAGA	0.342																																						ENST00000369522.3		NA																RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(382-384)agafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115401257_115401258insAAAATATCCAT	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	Exception_encountered	1.37:g.115401257_115401258insAAAATATCCAT	ENSP00000358535:p.Arg128fs	False	False		Somatic	0				SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.R128fs	p.R128fs	NM_003176.2	NP_003167.2	WXS	Illumina HiSeq	Phase_I	Q15431	SYCP1_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)	6	621_622	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	128					O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.381_382insAAAATATCCAT	CCDS879.1																																																																																				0.342	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	0	NM_003176		1:115401257
GLYATL1	92292	broad.mit.edu	37	11	58722819	58722820	+	Frame_Shift_Ins	INS	-	-	ACCTCAGTGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:58722819_58722820insACCTCAGTGC	ENST00000317391.4	+	7	824_825	c.484_485insACCTCAGTGC	c.(484-486)tttfs	p.F162fs	GLYATL1_ENST00000300079.5_Frame_Shift_Ins_p.F193fs|RP11-142C4.6_ENST00000525714.1_RNA|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	162						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGATGATGAATTTGAAAGGTAC	0.396																																						ENST00000300079.5		NA																	0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(577-579)tttfs		glycine-N-acyltransferase-like 1	Glycine(DB00145)																																			SO:0001589	frameshift_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722819_58722820insACCTCAGTGC	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	Exception_encountered	11.37:g.58722819_58722820insACCTCAGTGC	ENSP00000322223:p.Phe162fs	True	False		Somatic	0				GLYATL1_ENST00000317391.4_Frame_Shift_Ins_p.F162fs|RP11-142C4.6_ENST00000533954.1_RNA	p.F193fs	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	WXS	Illumina HiSeq	Phase_I	Q969I3	GLYL1_HUMAN			6	627_628	+			162					A6NDT0|Q7Z510|Q8NAW8	Frame_Shift_Ins	INS	ENST00000317391.4	37	c.577_578insACCTCAGTGC	CCDS55768.1																																																																																				0.396	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	0	NM_080661		11:58722819
NXF1	10482	broad.mit.edu	37	11	62564003	62564004	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:62564003_62564004insA	ENST00000532297.1	-	15	1843_1844	c.1214_1215insT	c.(1213-1215)gggfs	p.G405fs	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.G405fs|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	405	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCCAGGAGCCCTTGTCGGTC	0.51																																						ENST00000532297.1		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1213-1215)gggfs		nuclear RNA export factor 1																																				SO:0001589	frameshift_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62564003_62564004insA	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1214_1215insT	11.37:g.62564003_62564004insA	ENSP00000436679:p.Gly405fs	True	False		Somatic	0				NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.G405fs	p.G405fs			WXS	Illumina HiSeq	Phase_I	Q9UBU9	NXF1_HUMAN			15	1843_1844	-			405			NTF2.		B4E269|Q99799|Q9UQL2	Frame_Shift_Ins	INS	ENST00000532297.1	37	c.1214_1215insT	CCDS8037.1																																																																																				0.510	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	0	NM_006362		11:62564003
MEN1	4221	broad.mit.edu	37	11	64575469	64575470	+	Frame_Shift_Ins	INS	-	-	ACATAGGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:64575469_64575470insACATAGGA	ENST00000337652.1	-	3	1065_1066	c.562_563insTCCTATGT	c.(562-564)tggfs	p.W188fs	MEN1_ENST00000377313.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000394376.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000377316.2_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000315422.4_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000312049.6_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000443283.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000377326.3_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000394374.2_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000377321.1_Splice_Site_p.W183fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	188			W -> R (in MEN1 and parathyroid tumor). {ECO:0000269|PubMed:10576763, ECO:0000269|PubMed:11034102}.|W -> S (in MEN1). {ECO:0000269|PubMed:9215690, ECO:0000269|PubMed:9463336}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.W183*(1)|p.W183R(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AAACACTACCCAGGCATGATCC	0.639			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000377316.2		NA	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.W183*(1)|p.W183R(1)	pancreas(2)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CM970925|CM981259|CM993810	MEN1	M		c.(547-549)tggfs		multiple endocrine neoplasia I																																				SO:0001589	frameshift_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575469_64575470insACATAGGA	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.562_563insTCCTATGT	11.37:g.64575469_64575470insACATAGGA	ENSP00000337088:p.Trp188fs	True	False		Somatic	0				MEN1_ENST00000377326.3_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000337652.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000312049.6_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000394376.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000377321.1_Splice_Site_p.W183fs|MEN1_ENST00000394374.2_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000443283.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000315422.4_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000377313.1_Frame_Shift_Ins_p.W188fs	p.W183fs			WXS	Illumina HiSeq	Phase_I	O00255	MEN1_HUMAN			2	922_923	-			188					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Ins	INS	ENST00000337652.1	37	c.547_548insTCCTATGT	CCDS8083.1																																																																																				0.639	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	0			11:64575469
EHBP1L1	254102	broad.mit.edu	37	11	65350390	65350391	+	In_Frame_Ins	INS	-	-	TATCTTCTATCTTCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:65350390_65350391insTATCTTCTATCTTCA	ENST00000309295.4	+	9	2512_2513	c.2247_2248insTATCTTCTATCTTCA	c.(2248-2250)gta>TATCTTCTATCTTCAgta	p.749_750insYLLSS		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	749	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTGACATATTGGTAGCCCAGGA	0.505																																						ENST00000309295.4		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2248-2250)gta>TATCTTCTATCTTCAgta		EH domain binding protein 1-like 1																																				SO:0001652	inframe_insertion	254102							g.chr11:65350390_65350391insTATCTTCTATCTTCA	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	Exception_encountered	11.37:g.65350390_65350391insTATCTTCTATCTTCA	ENSP00000312671:p.Leu749_Val750insTyrLeuLeuSerSer	False	False		Somatic	0					p.749_750insYLLSS	NM_001099409.1	NP_001092879.1	WXS	Illumina HiSeq	Phase_I	Q8N3D4	EH1L1_HUMAN			9	2512_2513	+			749			Glu-rich.		Q8TB89|Q9H7M7	In_Frame_Ins	INS	ENST00000309295.4	37	c.2247_2248insTATCTTCTATCTTCA	CCDS44649.1																																																																																				0.505	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	0	XM_170658		11:65350390
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
B3GNT6	192134	broad.mit.edu	37	11	76750683	76750684	+	In_Frame_Ins	INS	-	-	AAAAAGGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:76750683_76750684insAAAAAGGAA	ENST00000533140.1	+	2	226_227	c.88_89insAAAAAGGAA	c.(88-90)ttc>tAAAAAGGAAtc	p.30_30F>*KGI	B3GNT6_ENST00000354301.5_In_Frame_Ins_p.30_30F>*KGI|B3GNT6_ENST00000421061.1_Intron			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GCAGCAGTGGTTCCTCCAGGCG	0.678											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533140.1		NA																	0				central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						c.(88-90)ttc>tAAAAAGGAAtc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)																																				SO:0001652	inframe_insertion	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76750683_76750684insAAAAAGGAA	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		Exception_encountered	11.37:g.76750683_76750684insAAAAAGGAA	ENSP00000435352:p.Phe30delins*LysGlyIle	False	False		Somatic	0	OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170	B3GNT6_ENST00000354301.5_In_Frame_Ins_p.30_30F>*KGI|B3GNT6_ENST00000421061.1_Intron	p.30_30F>*KGI			WXS	Illumina HiSeq	Phase_I	Q6ZMB0	B3GN6_HUMAN			2	226_227	+			30					Q4TTN0	In_Frame_Ins	INS	ENST00000533140.1	37	c.88_89insAAAAAGGAA	CCDS53681.1																																																																																				0.678	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	0	NM_138706		11:76750683
FAT3	120114	broad.mit.edu	37	11	92532233	92532234	+	Frame_Shift_Ins	INS	-	-	ATGTAGTG	rs186427681		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:92532233_92532234insATGTAGTG	ENST00000298047.6	+	9	6071_6072	c.6054_6055insATGTAGTG	c.(6055-6057)atcfs	p.I2019fs	FAT3_ENST00000409404.2_Frame_Shift_Ins_p.I2019fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.I1869fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2019	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAAATACAGCATCTTAAACCC	0.406										TCGA Ovarian(4;0.039)																												ENST00000525166.1		NA																	0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5605-5607)atcfs		FAT atypical cadherin 3																																				SO:0001589	frameshift_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532233_92532234insATGTAGTG	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	Exception_encountered	11.37:g.92532233_92532234insATGTAGTG	ENSP00000298047:p.Ile2019fs	False	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000409404.2_Frame_Shift_Ins_p.I2019fs|FAT3_ENST00000298047.6_Frame_Shift_Ins_p.I2019fs	p.I1869fs			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			9	5626_5627	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2019			Cadherin 16.		B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37	c.5604_5605insATGTAGTG																																																																																					0.406	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92532233
ATM	472	broad.mit.edu	37	11	108173724	108173725	+	In_Frame_Ins	INS	-	-	TATAAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:108173724_108173725insTATAAC	ENST00000452508.2	+	37	5653_5654	c.5464_5465insTATAAC	c.(5464-5466)gaa>gTATAACaa	p.1822_1822E>V*Q	ATM_ENST00000278616.4_In_Frame_Ins_p.1822_1822E>V*Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1822					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E1822*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CACAAAATGTGAAATTCTTCAA	0.337			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000452508.2		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Substitution - Nonsense(1)	p.E1822*(1)	large_intestine(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5464-5466)gaa>gTATAACaa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001652	inframe_insertion	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108173724_108173725insTATAAC	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	Exception_encountered	11.37:g.108173724_108173725insTATAAC	ENSP00000388058:p.Glu1822delinsVal*Gln	True	False	TSP Lung(14;0.12)	Somatic	0				ATM_ENST00000278616.4_In_Frame_Ins_p.1822_1822E>V*Q	p.1822_1822E>V*Q			WXS	Illumina HiSeq	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	5653_5654	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1822					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	In_Frame_Ins	INS	ENST00000452508.2	37	c.5464_5465insTATAAC	CCDS31669.1																																																																																				0.337	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	0	NM_000051		11:108173724
KCNA6	3742	broad.mit.edu	37	12	4920089	4920090	+	In_Frame_Ins	INS	-	-	TGGGGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:4920089_4920090insTGGGGT	ENST00000280684.3	+	1	1748_1749	c.882_883insTGGGGT	c.(883-885)atc>TGGGGTatc	p.294_295insWG	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_In_Frame_Ins_p.294_295insWG			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	294					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TCTTCCGGAACATCATGAACAT	0.569										HNSCC(72;0.22)																												ENST00000280684.3		NA																	0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(883-885)atc>TGGGGTatc		potassium voltage-gated channel, shaker-related subfamily, member 6																																				SO:0001652	inframe_insertion	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920089_4920090insTGGGGT	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		Exception_encountered	12.37:g.4920089_4920090insTGGGGT	ENSP00000280684:p.Asn294_Ile295insTrpGly	False	False	HNSCC(72;0.22)	Somatic	0				KCNA6_ENST00000433855.1_In_Frame_Ins_p.294_295insWG	p.294_295insWG			WXS	Illumina HiSeq	Phase_I	P17658	KCNA6_HUMAN			1	1748_1749	+			294						In_Frame_Ins	INS	ENST00000280684.3	37	c.882_883insTGGGGT	CCDS8534.1																																																																																				0.569	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	0	NM_002235		12:4920089
SLC2A3	6515	broad.mit.edu	37	12	8075534	8075535	+	Frame_Shift_Ins	INS	-	-	CCTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:8075534_8075535insCCTAT	ENST00000075120.7	-	9	1394_1395	c.1154_1155insATAGG	c.(1153-1155)cccfs	p.-385fs		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3						carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAATAAACCAGGGAATGGGGCC	0.535																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1153-1155)cccfs		solute carrier family 2 (facilitated glucose transporter), member 3																																				SO:0001589	frameshift_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8075534_8075535insCCTAT	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1154_1155insATAGG	12.37:g.8075534_8075535insCCTAT	ENSP00000075120:p.Pro385fs	True	False		Somatic	0					p.-385fs	NM_006931.2	NP_008862.1	WXS	Illumina HiSeq	Phase_I	P11169	GTR3_HUMAN		Kidney(36;0.0866)	9	1394_1395	-			NA					B2R606|D3DUU6|Q6I9U2|Q9UG15	Frame_Shift_Ins	INS	ENST00000075120.7	37	c.1154_1155insATAGG	CCDS8586.1																																																																																				0.535	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	0	NM_006931		12:8075534
C3AR1	719	broad.mit.edu	37	12	8212240	8212241	+	Frame_Shift_Ins	INS	-	-	TATTTAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:8212240_8212241insTATTTAA	ENST00000307637.4	-	2	744_745	c.541_542insTTAAATA	c.(541-543)tcafs	p.S181fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	181					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ATAATCTAATGAGCTGGAGAGA	0.426																																						ENST00000307637.4		NA																	0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(541-543)tcafs		complement component 3a receptor 1																																				SO:0001589	frameshift_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212240_8212241insTATTTAA	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.541_542insTTAAATA	12.37:g.8212240_8212241insTATTTAA	ENSP00000302079:p.Ser181fs	False	False		Somatic	0					p.S181fs	NM_004054.2	NP_004045.1	WXS	Illumina HiSeq	Phase_I	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	744_745	-			181					O43771|Q92868	Frame_Shift_Ins	INS	ENST00000307637.4	37	c.541_542insTTAAATA	CCDS8588.1																																																																																				0.426	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1	0			12:8212240
C12orf60	144608	broad.mit.edu	37	12	14976418	14976419	+	Frame_Shift_Del	DEL	TA	TA	-	rs202023163|rs10556010|rs139293175	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:14976418_14976419delTA	ENST00000330828.2	+	2	753_754	c.549_550delTA	c.(547-552)actatgfs	p.M184fs	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAACCACTATGATAGACAC	0.401														952	0.190096	0.323	0.0893	5008	,	,		19363	0.0823		0.1431	False		,,,				2504	0.2413					ENST00000330828.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						c.(547-552)actatgfs		chromosome 12 open reading frame 60				1110,3154		144,822,1166						1.4	0.0		dbSNP_119	49	1274,6978		101,1072,2953	no	frameshift	C12orf60	NM_175874.3		245,1894,4119	A1A1,A1R,RR		15.4387,26.0319,19.0476				2384,10132				SO:0001589	frameshift_variant	144608							g.chr12:14976418_14976419delTA	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.549_550delTA	12.37:g.14976418_14976419delTA	ENSP00000331691:p.Met184fs	False	False		Somatic	1				C12orf60_ENST00000527783.1_Intron	p.M184fs	NM_175874.3	NP_787070.2	WXS	Illumina HiSeq	Phase_I	Q5U649	CL060_HUMAN			2	753_754	+			184					A8K1M7|Q5XKK8|Q8IXY2	Frame_Shift_Del	DEL	ENST00000330828.2	37	c.549_550delTA	CCDS8667.1																																																																																				0.401	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	0	NM_175874		12:14976418
PYROXD1	79912	broad.mit.edu	37	12	21609031	21609032	+	Splice_Site	INS	-	-	GAAATTAAATAATATAAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:21609031_21609032insGAAATTAAATAATATAAAA	ENST00000240651.9	+	7	804		c.e7+2		PYROXD1_ENST00000538582.1_Splice_Site|PYROXD1_ENST00000545178.1_Splice_Site	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1								oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ACAAAAGAGGTATCTTTTCATA	0.322																																						ENST00000538582.1		NA																	0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.e7+2		pyridine nucleotide-disulphide oxidoreductase domain 1																																				SO:0001630	splice_region_variant	79912						oxidoreductase activity	g.chr12:21609031_21609032insGAAATTAAATAATATAAAA	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.750+2->GAAATTAAATAATATAAAA	12.37:g.21609031_21609032insGAAATTAAATAATATAAAA		False	False		Somatic	0				PYROXD1_ENST00000240651.9_Splice_Site|PYROXD1_ENST00000545178.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q8WU10	PYRD1_HUMAN			7	1290	+			NA					A6NKI6|B3KWN8|Q9H6P1	Splice_Site	INS	ENST00000240651.9	37		CCDS31755.1																																																																																				0.322	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	0	NM_024854	Intron	12:21609031
CCDC91	55297	broad.mit.edu	37	12	28459820	28459821	+	Frame_Shift_Ins	INS	-	-	ACACAAGAGAGGAAAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:28459820_28459821insACACAAGAGAGGAAAG	ENST00000545336.1	+	8	832_833	c.413_414insACACAAGAGAGGAAAG	c.(412-417)atttcafs	p.S139fs	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.S109fs|CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.S139fs			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	139					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)					CAGCAAAAAATTTCAAGTCTGG	0.327																																						ENST00000545336.1		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(412-417)atttcafs		coiled-coil domain containing 91																																				SO:0001589	frameshift_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459820_28459821insACACAAGAGAGGAAAG	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		Exception_encountered	12.37:g.28459820_28459821insACACAAGAGAGGAAAG	ENSP00000438040:p.Ser139fs	True	False		Somatic	0				CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.S109fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.S139fs	p.S139fs			WXS	Illumina HiSeq	Phase_I	Q7Z6B0	CCD91_HUMAN			8	832_833	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		139					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Frame_Shift_Ins	INS	ENST00000545336.1	37	c.413_414insACACAAGAGAGGAAAG	CCDS8716.1																																																																																				0.327	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	0	NM_018318		12:28459820
CCDC91	55297	broad.mit.edu	37	12	28459822	28459823	+	Frame_Shift_Ins	INS	-	-	TA	rs541693833		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:28459822_28459823insTA	ENST00000545336.1	+	8	834_835	c.415_416insTA	c.(415-417)tcafs	p.S139fs	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.S109fs|CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.S139fs			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	139					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)					GCAAAAAATTTCAAGTCTGGAG	0.332																																						ENST00000545336.1		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(415-417)tcafs		coiled-coil domain containing 91																																				SO:0001589	frameshift_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459822_28459823insTA	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		Exception_encountered	12.37:g.28459822_28459823insTA	ENSP00000438040:p.Ser139fs	True	False		Somatic	0				CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.S109fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.S139fs	p.S139fs			WXS	Illumina HiSeq	Phase_I	Q7Z6B0	CCD91_HUMAN			8	834_835	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		139					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Frame_Shift_Ins	INS	ENST00000545336.1	37	c.415_416insTA	CCDS8716.1																																																																																				0.332	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	0	NM_018318		12:28459822
POGZ	23126	broad.mit.edu	37	1	151400880	151400881	+	Frame_Shift_Ins	INS	-	-	GCAAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:151400880_151400881insGCAAC	ENST00000271715.2	-	6	891_892	c.577_578insGTTGC	c.(577-579)accfs	p.T193fs	POGZ_ENST00000531094.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000392723.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000368863.2_Frame_Shift_Ins_p.T98fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.T193fs|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000491586.1_Frame_Shift_Ins_p.T140fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	193					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACAAACTGGGTACCTGGGGCT	0.5																																						ENST00000271715.2		NA																	0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(577-579)accfs		pogo transposable element with ZNF domain																																				SO:0001589	frameshift_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151400880_151400881insGCAAC	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.577_578insGTTGC	1.37:g.151400880_151400881insGCAAC	ENSP00000271715:p.Thr193fs	True	False		Somatic	0				POGZ_ENST00000392723.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.T193fs|POGZ_ENST00000368863.2_Frame_Shift_Ins_p.T98fs|POGZ_ENST00000491586.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000531094.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000540984.1_Intron	p.T193fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	WXS	Illumina HiSeq	Phase_I	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	891_892	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		193					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Ins	INS	ENST00000271715.2	37	c.577_578insGTTGC	CCDS997.1																																																																																				0.500	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	0	NM_207171		1:151400880
SCAF11	9169	broad.mit.edu	37	12	46320520	46320521	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:46320520_46320521insCC	ENST00000369367.3	-	11	3196_3197	c.2963_2964insGG	c.(2962-2964)gacfs	p.D988fs	SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.D988fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Frame_Shift_Ins_p.D673fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.D796fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	988					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTTTCTCTGGGTCATTCTTTCT	0.411																																						ENST00000465950.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2017-2019)gacfs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320520_46320521insCC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2963_2964insGG	12.37:g.46320520_46320521insCC	ENSP00000358374:p.Asp988fs	True	False		Somatic	0				SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.D988fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.D796fs|SCAF11_ENST00000369367.3_Frame_Shift_Ins_p.D988fs	p.D673fs			WXS	Illumina HiSeq	Phase_I	Q99590	SCAFB_HUMAN			1	3227_3228	-			988					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Ins	INS	ENST00000369367.3	37	c.2018_2019insGG	CCDS8748.2																																																																																				0.411	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	0	NM_004719		12:46320520
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	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)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	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.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
ATP2B1	490	broad.mit.edu	37	12	89984864	89984865	+	Frame_Shift_Ins	INS	-	-	AAAGAAACAAATTGAAACTGGG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:89984864_89984865insAAAGAAACAAATTGAAACTGGG	ENST00000428670.3	-	21	4015_4016	c.3559_3560insCCCAGTTTCAATTTGTTTCTTT	c.(3559-3561)aacfs	p.N1187fs	AC068641.1_ENST00000585304.1_RNA|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000359142.3_3'UTR|ATP2B1_ENST00000261173.2_Frame_Shift_Ins_p.N1187fs|ATP2B1_ENST00000393164.2_Frame_Shift_Ins_p.N930fs|ATP2B1_ENST00000348959.3_Frame_Shift_Ins_p.N1151fs			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1225					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AACAGCATTGTTATTTTTGTTG	0.441																																						ENST00000428670.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(3559-3561)aacfs		ATPase, Ca++ transporting, plasma membrane 1																																				SO:0001589	frameshift_variant	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89984864_89984865insAAAGAAACAAATTGAAACTGGG	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3559_3560insCCCAGTTTCAATTTGTTTCTTT	12.37:g.89984864_89984865insAAAGAAACAAATTGAAACTGGG	ENSP00000392043:p.Asn1187fs	False	False		Somatic	0				ATP2B1_ENST00000393164.2_Frame_Shift_Ins_p.N930fs|ATP2B1_ENST00000261173.2_Frame_Shift_Ins_p.N1187fs|ATP2B1_ENST00000348959.3_Frame_Shift_Ins_p.N1151fs|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000359142.3_3'UTR	p.N1187fs			WXS	Illumina HiSeq	Phase_I	P20020	AT2B1_HUMAN			21	4015_4016	-			1225					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Frame_Shift_Ins	INS	ENST00000428670.3	37	c.3559_3560insCCCAGTTTCAATTTGTTTCTTT	CCDS9035.1																																																																																				0.441	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	0	NM_001682		12:89984864
SP7	121340	broad.mit.edu	37	12	53723136	53723137	+	Frame_Shift_Ins	INS	-	-	TGCTAAT	rs201020092		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:53723136_53723137insTGCTAAT	ENST00000536324.2	-	3	372_373	c.89_90insATTAGCA	c.(88-90)tctfs	p.-30fs	SP7_ENST00000303846.3_Frame_Shift_Ins_p.-30fs|SP7_ENST00000537210.2_Frame_Shift_Ins_p.-12fs	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor						hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCAGAGGGCTAGAGCCACCAAA	0.569																																						ENST00000537210.2		NA																	0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(34-36)tctfs		Sp7 transcription factor																																				SO:0001589	frameshift_variant	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53723136_53723137insTGCTAAT	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.89_90insATTAGCA	12.37:g.53723136_53723137insTGCTAAT	ENSP00000443827:p.Ser30fs	False	False		Somatic	0				SP7_ENST00000536324.2_Frame_Shift_Ins_p.-30fs|SP7_ENST00000303846.3_Frame_Shift_Ins_p.-30fs	p.-12fs			WXS	Illumina HiSeq	Phase_I	Q8TDD2	SP7_HUMAN			2	264_265	-			NA					B3KY26|Q3MJ72|Q7Z718	Frame_Shift_Ins	INS	ENST00000536324.2	37	c.35_36insATTAGCA	CCDS44897.1																																																																																				0.569	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1	0			12:53723136
APPL2	55198	broad.mit.edu	37	12	105610895	105610896	+	Frame_Shift_Ins	INS	-	-	ATATCTGAGAAGGTATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:105610895_105610896insATATCTGAGAAGGTATC	ENST00000258530.3	-	4	461_462	c.236_237insGATACCTTCTCAGATAT	c.(235-237)gatfs	p.D79fs	APPL2_ENST00000551662.1_Frame_Shift_Ins_p.D79fs|APPL2_ENST00000539978.2_Frame_Shift_Ins_p.D36fs	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	527					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTACTTCTTCATCACCTTTGCC	0.376																																						ENST00000258530.3		NA																	0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(235-237)gatfs		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2																																				SO:0001589	frameshift_variant	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105610895_105610896insATATCTGAGAAGGTATC	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.236_237insGATACCTTCTCAGATAT	12.37:g.105610895_105610896insATATCTGAGAAGGTATC	ENSP00000258530:p.Asp79fs	False	False		Somatic	0				APPL2_ENST00000539978.2_Frame_Shift_Ins_p.D36fs|APPL2_ENST00000551662.1_Frame_Shift_Ins_p.D79fs	p.D79fs	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	WXS	Illumina HiSeq	Phase_I	Q8NEU8	DP13B_HUMAN			4	461_462	-			79			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Frame_Shift_Ins	INS	ENST00000258530.3	37	c.236_237insGATACCTTCTCAGATAT	CCDS9101.1																																																																																				0.376	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	0	NM_018171		12:105610895
CCDC63	160762	broad.mit.edu	37	12	111322040	111322041	+	Frame_Shift_Ins	INS	-	-	AGCTCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:111322040_111322041insAGCTCCT	ENST00000308208.5	+	8	1302_1303	c.1060_1061insAGCTCCT	c.(1060-1062)accfs	p.T354fs	CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.T314fs|CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.T275fs	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	354										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCACAAGAGGACCCAACGAATC	0.554																																						ENST00000545036.1		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(940-942)accfs		coiled-coil domain containing 63																																				SO:0001589	frameshift_variant	160762							g.chr12:111322040_111322041insAGCTCCT	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	Exception_encountered	12.37:g.111322040_111322041insAGCTCCT	ENSP00000312399:p.Thr354fs	True	False		Somatic	0				CCDC63_ENST00000308208.5_Frame_Shift_Ins_p.T354fs|CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.T275fs	p.T314fs			WXS	Illumina HiSeq	Phase_I	Q8NA47	CCD63_HUMAN			7	1197_1198	+			354					B4DY03|Q0P603|Q6P2E1	Frame_Shift_Ins	INS	ENST00000308208.5	37	c.940_941insAGCTCCT	CCDS9151.1																																																																																				0.554	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	0	NM_152591		12:111322040
ATXN2	6311	broad.mit.edu	37	12	111908548	111908549	+	Splice_Site	DEL	TG	TG	-	rs200655762		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:111908548_111908549delTG	ENST00000377617.3	-	19	3160		c.e19-2		ATXN2_ENST00000550104.1_Splice_Site|ATXN2_ENST00000535949.1_Splice_Site|ATXN2_ENST00000389153.4_Splice_Site|ATXN2_ENST00000608853.1_Splice_Site|ATXN2_ENST00000542287.2_Splice_Site	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2						cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TATTTGGTACTGCAGAAAAAAA	0.51																																						ENST00000542287.2		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.e19-2		ataxin 2																																				SO:0001630	splice_region_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111908548_111908549delTG	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2999-2CA>-	12.37:g.111908548_111908549delTG		False	False		Somatic	1				ATXN2_ENST00000389153.4_Splice_Site|ATXN2_ENST00000377617.3_Splice_Site|ATXN2_ENST00000535949.1_Splice_Site|ATXN2_ENST00000550104.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q99700	ATX2_HUMAN			19	2366	-			NA					A6NLD4|Q6ZQZ7|Q99493	Splice_Site	DEL	ENST00000377617.3	37		CCDS31902.1																																																																																				0.510	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	0	NM_002973	Intron	12:111908548
RPL6	6128	broad.mit.edu	37	12	112846370	112846371	+	Frame_Shift_Ins	INS	-	-	GAAAAGAAAAAGAAGGAGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:112846370_112846371insGAAAAGAAAAAGAAGGAGA	ENST00000424576.2	-	2	275_276	c.90_91insTCTCCTTCTTTTTCTTTTC	c.(88-93)ggtaacfs	p.N31fs	RPL6_ENST00000202773.9_Frame_Shift_Ins_p.N31fs	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	31					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)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GCTTTGAGGTTACCCTTTTTCA	0.47																																						ENST00000424576.2		NA																	0				cervix(1)|large_intestine(6)|lung(3)	10						c.(88-93)ggtaacfs		ribosomal protein L6																																				SO:0001589	frameshift_variant	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112846370_112846371insGAAAAGAAAAAGAAGGAGA	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.90_91insTCTCCTTCTTTTTCTTTTC	12.37:g.112846370_112846371insGAAAAGAAAAAGAAGGAGA	ENSP00000403172:p.Asn31fs	True	False		Somatic	0				RPL6_ENST00000202773.9_Frame_Shift_Ins_p.N31fs	p.N31fs	NM_001024662.1	NP_001019833.1	WXS	Illumina HiSeq	Phase_I	Q02878	RL6_HUMAN			2	275_276	-			31					Q2M3Q3|Q8WW97	Frame_Shift_Ins	INS	ENST00000424576.2	37	c.90_91insTCTCCTTCTTTTTCTTTTC	CCDS9162.1																																																																																				0.470	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1	0			12:112846370
HCAR1	27198	broad.mit.edu	37	12	123214228	123214229	+	Frame_Shift_Ins	INS	-	-	T	rs372254985		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:123214228_123214229insT	ENST00000436083.2	-	1	1161_1162	c.658_659insA	c.(658-660)cggfs	p.R220fs	HCAR1_ENST00000356987.2_Frame_Shift_Ins_p.R220fs|HCAR1_ENST00000432564.1_Frame_Shift_Ins_p.R220fs			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	220					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CATGATGAACCGGGTCGCCTTC	0.554																																						ENST00000436083.2		NA																	0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(658-660)cggfs		hydroxycarboxylic acid receptor 1																																				SO:0001589	frameshift_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214228_123214229insT	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.658_659insA	12.37:g.123214228_123214229insT	ENSP00000409980:p.Arg220fs	True	False		Somatic	0				HCAR1_ENST00000356987.2_Frame_Shift_Ins_p.R220fs|HCAR1_ENST00000432564.1_Frame_Shift_Ins_p.R220fs	p.R220fs			WXS	Illumina HiSeq	Phase_I	Q9BXC0	HCAR1_HUMAN			1	1161_1162	-			220					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Frame_Shift_Ins	INS	ENST00000436083.2	37	c.658_659insA	CCDS9236.1																																																																																				0.554	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1	0			12:123214228
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		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)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		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.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
DZIP1	22873	broad.mit.edu	37	13	96242648	96242649	+	In_Frame_Ins	INS	-	-	AGATAT	rs370244086		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:96242648_96242649insAGATAT	ENST00000376829.2	-	17	2578_2579	c.1727_1728insATATCT	c.(1726-1728)agt>agATATCTt	p.576_576S>RYL	DZIP1_ENST00000347108.3_In_Frame_Ins_p.576_576S>RYL|DZIP1_ENST00000361396.2_In_Frame_Ins_p.557_557S>RYL|DZIP1_ENST00000361156.3_In_Frame_Ins_p.557_557S>RYL	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	576					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTGATTCCACACTTTTTAGTAC	0.361																																						ENST00000361396.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(1669-1671)agt>agATATCTt		DAZ interacting zinc finger protein 1																																				SO:0001652	inframe_insertion	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96242648_96242649insAGATAT	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1727_1728insATATCT	13.37:g.96242648_96242649insAGATAT	ENSP00000366025:p.Ser576delinsArgTyrLeu	True	False		Somatic	0				DZIP1_ENST00000361156.3_In_Frame_Ins_p.557_557S>RYL|DZIP1_ENST00000376829.2_In_Frame_Ins_p.576_576S>RYL|DZIP1_ENST00000347108.3_In_Frame_Ins_p.576_576S>RYL	p.557_557S>RYL	NM_014934.4	NP_055749.1	WXS	Illumina HiSeq	Phase_I	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		16	2508_2509	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		576					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	In_Frame_Ins	INS	ENST00000376829.2	37	c.1670_1671insATATCT	CCDS9478.1																																																																																				0.361	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	0	NM_014934		13:96242648
DZIP1	22873	broad.mit.edu	37	13	96242649	96242650	+	Frame_Shift_Ins	INS	-	-	ATTAAACAAA	rs370244086		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:96242649_96242650insATTAAACAAA	ENST00000376829.2	-	17	2577_2578	c.1726_1727insTTTGTTTAAT	c.(1726-1728)agtfs	p.S576fs	DZIP1_ENST00000347108.3_Frame_Shift_Ins_p.S576fs|DZIP1_ENST00000361396.2_Frame_Shift_Ins_p.S557fs|DZIP1_ENST00000361156.3_Frame_Shift_Ins_p.S557fs	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	576					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGATTCCACACTTTTTAGTACT	0.361																																						ENST00000361396.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(1669-1671)agtfs		DAZ interacting zinc finger protein 1																																				SO:0001589	frameshift_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96242649_96242650insATTAAACAAA	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1726_1727insTTTGTTTAAT	13.37:g.96242649_96242650insATTAAACAAA	ENSP00000366025:p.Ser576fs	True	False		Somatic	0				DZIP1_ENST00000361156.3_Frame_Shift_Ins_p.S557fs|DZIP1_ENST00000376829.2_Frame_Shift_Ins_p.S576fs|DZIP1_ENST00000347108.3_Frame_Shift_Ins_p.S576fs	p.S557fs	NM_014934.4	NP_055749.1	WXS	Illumina HiSeq	Phase_I	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		16	2507_2508	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		576					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Frame_Shift_Ins	INS	ENST00000376829.2	37	c.1669_1670insTTTGTTTAAT	CCDS9478.1																																																																																				0.361	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	0	NM_014934		13:96242649
HAUS4	54930	broad.mit.edu	37	14	23417134	23417135	+	In_Frame_Ins	INS	-	-	ACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:23417134_23417135insACT	ENST00000206474.7	-	7	902_903	c.650_651insAGT	c.(649-651)aag>aaAGTg	p.217_218insV	HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555367.1_In_Frame_Ins_p.172_173insV|RP11-298I3.5_ENST00000555074.1_In_Frame_Ins_p.46_47QE>QSE|HAUS4_ENST00000541587.1_In_Frame_Ins_p.217_218insV|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_In_Frame_Ins_p.93_94insV			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	217					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTGCTGGCTCTTGGCATCCTG	0.559																																						ENST00000206474.7		NA																	0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(649-651)aag>aaAGTg		HAUS augmin-like complex, subunit 4																																				SO:0001652	inframe_insertion	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23417134_23417135insACT	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.650_651insAGT	14.37:g.23417134_23417135insACT	ENSP00000206474:p.Lys217_Ser218insVal	False	False		Somatic	0				HAUS4_ENST00000555986.1_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000342454.8_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000490506.1_In_Frame_Ins_p.93_94insV|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000541587.1_In_Frame_Ins_p.217_218insV|RP11-298I3.5_ENST00000555074.1_In_Frame_Ins_p.46_47QE>QSE|HAUS4_ENST00000555367.1_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000554446.1_Intron	p.217_218insV			WXS	Illumina HiSeq	Phase_I	Q9H6D7	HAUS4_HUMAN			7	902_903	-			217					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	In_Frame_Ins	INS	ENST00000206474.7	37	c.650_651insAGT	CCDS9580.1																																																																																				0.559	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3	0			14:23417134
ACIN1	22985	broad.mit.edu	37	14	23549369	23549370	+	Frame_Shift_Ins	INS	-	-	GAATGTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:23549369_23549370insGAATGTC	ENST00000262710.1	-	6	1675_1676	c.1348_1349insGACATTC	c.(1348-1350)attfs	p.I450fs	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.I410fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.I450fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.I392fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	450					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGATAACTGAATGAGGACAGCG	0.495																																						ENST00000262710.1		NA																	0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1348-1350)attfs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549369_23549370insGAATGTC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1348_1349insGACATTC	14.37:g.23549369_23549370insGAATGTC	ENSP00000262710:p.Ile450fs	False	False		Somatic	0				ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.I450fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.I392fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.I410fs	p.I450fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	WXS	Illumina HiSeq	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1675_1676	-	all_cancers(95;1.36e-05)		450					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Ins	INS	ENST00000262710.1	37	c.1348_1349insGACATTC	CCDS9587.1																																																																																				0.495	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	0	NM_014977		14:23549369
AP1G2	8906	broad.mit.edu	37	14	24031614	24031615	+	Frame_Shift_Ins	INS	-	-	ACCCCCTAGC	rs553468910		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:24031614_24031615insACCCCCTAGC	ENST00000308724.5	-	15	2265_2266	c.1510_1511insGCTAGGGGGT	c.(1510-1512)gagfs	p.E504fs	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Frame_Shift_Ins_p.E504fs|AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.4_ENST00000553985.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	504					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CAGCACTTCCTCTTCGTCCACC	0.574											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308724.5		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(1510-1512)gagfs		adaptor-related protein complex 1, gamma 2 subunit																																				SO:0001589	frameshift_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24031614_24031615insACCCCCTAGC	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1510_1511insGCTAGGGGGT	14.37:g.24031614_24031615insACCCCCTAGC	ENSP00000312442:p.Glu504fs	False	False		Somatic	0	OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	AP1G2_ENST00000397120.3_Frame_Shift_Ins_p.E504fs|RP11-66N24.3_ENST00000555968.1_RNA	p.E504fs	NM_003917.2	NP_003908.1	WXS	Illumina HiSeq	Phase_I	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	15	2265_2266	-	all_cancers(95;0.000251)		504					D3DS51|O75504	Frame_Shift_Ins	INS	ENST00000308724.5	37	c.1510_1511insGCTAGGGGGT	CCDS9602.1																																																																																				0.574	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	0	NM_003917		14:24031614
HEATR5A	25938	broad.mit.edu	37	14	31765237	31765238	+	In_Frame_Ins	INS	-	-	ACAATTTTTTTATTTTTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:31765237_31765238insACAATTTTTTTATTTTTA	ENST00000389961.3	-	33	5477_5478	c.5478_5479insTAAAAATAAAAAAATTGT	c.(5476-5481)gtcagt>gtcTAAAAATAAAAAAATTGTagt	p.1826_1827VS>V*K*KNCS	HEATR5A_ENST00000543095.2_In_Frame_Ins_p.1832_1833VS>V*K*KNCS|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_In_Frame_Ins_p.1751_1752VS>V*K*KNCS|HEATR5A_ENST00000439727.1_In_Frame_Ins_p.1539_1540VS>V*K*KNCS			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1826										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTAAGTAGACTGACTTCATCAA	0.366																																						ENST00000543095.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(5494-5499)gtcagt>gtcTAAAAATAAAAAAATTGTagt		HEAT repeat containing 5A																																				SO:0001652	inframe_insertion	25938						binding	g.chr14:31765237_31765238insACAATTTTTTTATTTTTA	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5478_5479insTAAAAATAAAAAAATTGT	14.37:g.31765237_31765238insACAATTTTTTTATTTTTA	ENSP00000374611:p.Val1826_Ser1827ins*Lys*LysAsnCys	True	False		Somatic	0				HEATR5A_ENST00000439348.1_In_Frame_Ins_p.1751_1752VS>V*K*KNCS|HEATR5A_ENST00000389961.3_In_Frame_Ins_p.1826_1827VS>V*K*KNCS|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_In_Frame_Ins_p.1539_1540VS>V*K*KNCS	p.1832_1833VS>V*K*KNCS	NM_015473.3	NP_056288.2	WXS	Illumina HiSeq	Phase_I	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	34	5680_5681	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1826					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	In_Frame_Ins	INS	ENST00000389961.3	37	c.5496_5497insTAAAAATAAAAAAATTGT																																																																																					0.366	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_015473		14:31765237
ATG2B	55102	broad.mit.edu	37	14	96808039	96808044	+	Splice_Site	DEL	CTACAA	CTACAA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTACAA	CTACAA	-	-	CTACAA	CTACAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:96808039_96808044delCTACAA	ENST00000359933.4	-	6	1638		c.e6-1			NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCTCAGTTTCCTACAATAAAGTGACa	0.301																																						ENST00000359933.4		NA																	0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.e6-1		autophagy related 2B																																				SO:0001630	splice_region_variant	55102							g.chr14:96808039_96808044delCTACAA	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.745-1TTGTAG>-	14.37:g.96808039_96808044delCTACAA		False	False		Somatic	1						NM_018036.5	NP_060506.5	WXS	Illumina HiSeq	Phase_I	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	6	1638	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	NA					Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	DEL	ENST00000359933.4	37		CCDS9944.2																																																																																				0.301	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	0	NM_018036	Intron	14:96808039
EIF5	1983	broad.mit.edu	37	14	103804729	103804730	+	In_Frame_Ins	INS	-	-	CTACCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:103804729_103804730insCTACCT	ENST00000216554.3	+	7	1181_1182	c.505_506insCTACCT	c.(505-507)gaa>gCTACCTaa	p.169_169E>AT*	EIF5_ENST00000558506.1_In_Frame_Ins_p.169_169E>AT*|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_In_Frame_Ins_p.169_169E>AT*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	169					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			caaagacaaggaaaATGGCTCC	0.421																																						ENST00000216554.3		NA																	0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(505-507)gaa>gCTACCTaa		eukaryotic translation initiation factor 5																																				SO:0001652	inframe_insertion	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103804729_103804730insCTACCT	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		Exception_encountered	14.37:g.103804729_103804730insCTACCT	ENSP00000216554:p.Glu169delinsAlaThr*	True	False		Somatic	0				EIF5_ENST00000392715.2_In_Frame_Ins_p.169_169E>AT*|EIF5_ENST00000558506.1_In_Frame_Ins_p.169_169E>AT*	p.169_169E>AT*	NM_001969.4	NP_001960.2	WXS	Illumina HiSeq	Phase_I	P55010	IF5_HUMAN	Epithelial(46;0.182)		7	1181_1182	+		Melanoma(154;0.155)	169					Q53XB3|Q9H5N2|Q9UG48	In_Frame_Ins	INS	ENST00000216554.3	37	c.505_506insCTACCT	CCDS9980.1																																																																																				0.421	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	0	NM_001969		14:103804729
IGSF8	93185	broad.mit.edu	37	1	160062127	160062128	+	In_Frame_Ins	INS	-	-	TATCTCTCTCCTCCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:160062127_160062128insTATCTCTCTCCTCCA	ENST00000368086.1	-	5	1886_1887	c.1670_1671insTGGAGGAGAGAGATA	c.(1669-1671)tgg>tgTGGAGGAGAGAGATAg	p.557_557W>CGGER*	IGSF8_ENST00000314485.7_In_Frame_Ins_p.557_557W>CGGER*|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	557	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	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)			CCGCCTGGTACCAGCTGTAGTC	0.644																																						ENST00000368086.1		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(1669-1671)tgg>tgTGGAGGAGAGAGATAg		immunoglobulin superfamily, member 8																																				SO:0001652	inframe_insertion	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062127_160062128insTATCTCTCTCCTCCA	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1670_1671insTGGAGGAGAGAGATA	1.37:g.160062127_160062128insTATCTCTCTCCTCCA	ENSP00000357065:p.Trp557delinsCysGlyGlyGluArg*	False	False		Somatic	0				IGSF8_ENST00000314485.7_In_Frame_Ins_p.557_557W>CGGER*	p.557_557W>CGGER*			WXS	Illumina HiSeq	Phase_I	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1886_1887	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		557			Ig-like C2-type 4.		Q8NG09|Q96DP4|Q9BTG9	In_Frame_Ins	INS	ENST00000368086.1	37	c.1670_1671insTGGAGGAGAGAGATA	CCDS1195.1																																																																																				0.644	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	0	NM_052868		1:160062127
SNURF	8926	broad.mit.edu	37	15	25230366	25230367	+	Intron	INS	-	-	CTGCAGATAGTGTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:25230366_25230367insCTGCAGATAGTGTA	ENST00000551312.2	+	6	1184				SNHG14_ENST00000551361.1_RNA|SNORD108_ENST00000459332.1_RNA|SNHG14_ENST00000551631.2_RNA|SNORD64_ENST00000386683.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AACATAAATTCTTAGACTCTAA	0.371																																						ENST00000551631.2		NA																	0					NA																																												SO:0001627	intron_variant	0							g.chr15:25230366_25230367insCTGCAGATAGTGTA		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+2782->CTGCAGATAGTGTA	15.37:g.25230366_25230367insCTGCAGATAGTGTA		False	False		Somatic	0				SNHG14_ENST00000551361.1_RNA		NR_001293.1		WXS	Illumina HiSeq	Phase_I					0	887	+			NA					A6NCW2	RNA	INS	ENST00000551312.2	37		CCDS10016.1																																																																																				0.371	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	0	NM_005678		15:25230366
ZSCAN29	146050	broad.mit.edu	37	15	43658416	43658418	+	In_Frame_Del	DEL	CCT	CCT	-	rs377169169|rs151154169	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43658416_43658418delCCT	ENST00000396976.2	-	3	1246_1248	c.1112_1114delAGG	c.(1111-1116)gaggga>gga	p.E371del	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_In_Frame_Del_p.E370del	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	371					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTTCTGCTCCCTCCTCATGCTG	0.601														118	0.0235623	0.0855	0.0058	5008	,	,		18099	0.0		0.001	False		,,,				2504	0.0					ENST00000396976.2		NA																	0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1111-1116)gaggga>gga		zinc finger and SCAN domain containing 29				330,3934		28,274,1830						-9.0	0.0		dbSNP_119	68	3,8251		0,3,4124	no	coding	ZSCAN29	NM_152455.3		28,277,5954	A1A1,A1R,RR		0.0363,7.7392,2.6602				333,12185				SO:0001651	inframe_deletion	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658416_43658418delCCT	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1112_1114delAGG	15.37:g.43658419_43658421delCCT	ENSP00000380174:p.Glu371del	True	False		Somatic	2				ZSCAN29_ENST00000562072.1_In_Frame_Del_p.E370del|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron	p.E371del	NM_152455.3	NP_689668.3	WXS	Illumina HiSeq	Phase_I	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	1246_1248	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	371					B3KVB9|Q32M75|Q32M76|Q8NA40	In_Frame_Del	DEL	ENST00000396976.2	37	c.1112_1114delAGG	CCDS10095.2																																																																																				0.601	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	0	NM_152455		15:43658416
MAP1A	4130	broad.mit.edu	37	15	43822015	43822016	+	In_Frame_Ins	INS	-	-	ATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43822015_43822016insATT	ENST00000300231.5	+	5	8653_8654	c.8203_8204insATT	c.(8203-8205)gct>gATTct	p.2735_2735A>DS	MAP1A_ENST00000399453.1_In_Frame_Ins_p.2735_2735A>DS|MAP1A_ENST00000382031.1_In_Frame_Ins_p.2973_2973A>DS			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2735					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCAAGCCGGGCTGTGCTGGAT	0.574																																						ENST00000382031.1		NA																	0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8917-8919)gct>gATTct		microtubule-associated protein 1A	Estramustine(DB01196)																																			SO:0001652	inframe_insertion	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43822015_43822016insATT	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	Exception_encountered	15.37:g.43822015_43822016insATT	ENSP00000300231:p.Ala2735delinsAspSer	True	False		Somatic	0				MAP1A_ENST00000399453.1_In_Frame_Ins_p.2735_2735A>DS|MAP1A_ENST00000300231.5_In_Frame_Ins_p.2735_2735A>DS	p.2973_2973A>DS			WXS	Illumina HiSeq	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	6	8948_8949	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2735					O95643|Q12973|Q15882|Q9UJT4	In_Frame_Ins	INS	ENST00000300231.5	37	c.8917_8918insATT	CCDS42031.1																																																																																				0.574	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	0	NM_002373		15:43822015
MAP1A	4130	broad.mit.edu	37	15	43822016	43822017	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43822016_43822017insAT	ENST00000300231.5	+	5	8654_8655	c.8204_8205insAT	c.(8203-8208)gctgtgfs	p.V2736fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.V2736fs|MAP1A_ENST00000382031.1_Frame_Shift_Ins_p.V2974fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2736					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAAGCCGGGCTGTGCTGGATG	0.579																																						ENST00000382031.1		NA																	0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8917-8922)gctgtgfs		microtubule-associated protein 1A	Estramustine(DB01196)																																			SO:0001589	frameshift_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43822016_43822017insAT	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	Exception_encountered	15.37:g.43822016_43822017insAT	ENSP00000300231:p.Val2736fs	False	False		Somatic	0				MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.V2736fs|MAP1A_ENST00000300231.5_Frame_Shift_Ins_p.V2736fs	p.V2974fs			WXS	Illumina HiSeq	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	6	8949_8950	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2736					O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Ins	INS	ENST00000300231.5	37	c.8918_8919insAT	CCDS42031.1																																																																																				0.579	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	0	NM_002373		15:43822016
BLOC1S6	26258	broad.mit.edu	37	15	45898690	45898691	+	Frame_Shift_Ins	INS	-	-	TTTGAGGTAATTCATTCACACTAATAAACTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:45898690_45898691insTTTGAGGTAATTCATTCACACTAATAAACTT	ENST00000220531.3	+	5	818_819	c.497_498insTTTGAGGTAATTCATTCACACTAATAAACTT	c.(496-501)gccagafs	p.R167fs	BLOC1S6_ENST00000564765.1_Frame_Shift_Ins_p.R41fs|BLOC1S6_ENST00000568816.1_Frame_Shift_Ins_p.R70fs|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000567740.1_3'UTR|BLOC1S6_ENST00000565323.1_Frame_Shift_Ins_p.R172fs|BLOC1S6_ENST00000567461.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000562384.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000565409.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000565216.1_Frame_Shift_Ins_p.R126fs	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	167					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										CAGTTAACTGCCAGACCAGCCA	0.426																																						ENST00000568816.1		NA																	0					NA						c.(205-210)gccagafs		biogenesis of lysosomal organelles complex-1, subunit 6, pallidin																																				SO:0001589	frameshift_variant	26258							g.chr15:45898690_45898691insTTTGAGGTAATTCATTCACACTAATAAACTT	AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	Exception_encountered	15.37:g.45898690_45898691insTTTGAGGTAATTCATTCACACTAATAAACTT	ENSP00000220531:p.Arg167fs	False	False		Somatic	0				RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000562384.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000564765.1_Frame_Shift_Ins_p.R41fs|BLOC1S6_ENST00000220531.3_Frame_Shift_Ins_p.R167fs|BLOC1S6_ENST00000565409.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000565216.1_Frame_Shift_Ins_p.R126fs|BLOC1S6_ENST00000565323.1_Frame_Shift_Ins_p.R172fs|BLOC1S6_ENST00000567461.1_Frame_Shift_Ins_p.R70fs|BLOC1S6_ENST00000567740.1_3'UTR	p.R70fs			WXS	Illumina HiSeq	Phase_I					6	795_796	+			NA						Frame_Shift_Ins	INS	ENST00000220531.3	37	c.206_207insTTTGAGGTAATTCATTCACACTAATAAACTT	CCDS10126.1																																																																																				0.426	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2	0	NM_012388		15:45898690
ARPP19	10776	broad.mit.edu	37	15	52849410	52849411	+	Frame_Shift_Ins	INS	-	-	AGGTATGTACATATGTGTATATGTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:52849410_52849411insAGGTATGTACATATGTGTATATGTA	ENST00000566423.1	-	3	187_188	c.54_55insTACATATACACATATGTACATACCT	c.(52-57)gaagatfs	p.D19fs	ARPP19_ENST00000563566.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000561650.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000569281.2_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000563277.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000249822.4_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000561971.1_Frame_Shift_Ins_p.D38fs|ARPP19_ENST00000567669.1_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000565288.1_5'Flank|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000564163.1_Frame_Shift_Ins_p.D38fs|ARPP19_ENST00000568196.1_Frame_Shift_Ins_p.D3fs			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	19					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of glucose import (GO:0046326)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	phosphatase inhibitor activity (GO:0019212)|potassium channel regulator activity (GO:0015459)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTCACTTTATCTTCCATTTCCT	0.312																																						ENST00000566423.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(52-57)gaagatfs		cAMP-regulated phosphoprotein, 19kDa																																				SO:0001589	frameshift_variant	10776				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	g.chr15:52849410_52849411insAGGTATGTACATATGTGTATATGTA	AF084555	CCDS32242.1	15q11.2	2009-04-20	2009-04-20		ENSG00000128989	ENSG00000128989			16967	protein-coding gene	gene with protein product	"""endosulfine alpha-like"""	605487				11279279, 8687439	Standard	NM_006628		Approved	ARPP-19, ARPP-16, ARPP16, ENSAL	uc002acd.1	P56211		ENST00000566423.1:c.54_55insTACATATACACATATGTACATACCT	15.37:g.52849410_52849411insAGGTATGTACATATGTGTATATGTA	ENSP00000455625:p.Asp19fs	False	False		Somatic	0				ARPP19_ENST00000561650.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000569281.2_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000249822.4_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000563277.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000561971.1_Frame_Shift_Ins_p.D38fs|ARPP19_ENST00000568196.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000564163.1_Frame_Shift_Ins_p.D38fs|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000563566.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000567669.1_Frame_Shift_Ins_p.D19fs	p.D19fs			WXS	Illumina HiSeq	Phase_I	P56211	ARP19_HUMAN			3	187_188	-			19					B2R497|Q6IAM2|Q86TA6|Q9UD70	Frame_Shift_Ins	INS	ENST00000566423.1	37	c.54_55insTACATATACACATATGTACATACCT	CCDS32242.1																																																																																				0.312	ARPP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419834.1	0	NM_006628		15:52849410
RFX7	64864	broad.mit.edu	37	15	56386171	56386172	+	Frame_Shift_Ins	INS	-	-	GTAATAGCAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:56386171_56386172insGTAATAGCAC	ENST00000559447.2	-	9	3734_3735	c.3463_3464insGTGCTATTAC	c.(3463-3465)gttfs	p.V1155fs	RFX7_ENST00000422057.1_Frame_Shift_Ins_p.V1155fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.V1252fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.V1252fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1155					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACTCAACAAAACATTGGTTATT	0.421																																						ENST00000559447.2		NA																	0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3463-3465)gttfs		regulatory factor X, 7																																				SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386171_56386172insGTAATAGCAC			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3463_3464insGTGCTATTAC	15.37:g.56386171_56386172insGTAATAGCAC	ENSP00000453281:p.Val1155fs	True	False		Somatic	0				RFX7_ENST00000422057.1_Frame_Shift_Ins_p.V1155fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.V1252fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.V1252fs	p.V1155fs			WXS	Illumina HiSeq	Phase_I	Q2KHR2	RFX7_HUMAN			9	3734_3735	-			1155					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	ENST00000559447.2	37	c.3463_3464insGTGCTATTAC																																																																																					0.421	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	0	NM_022841		15:56386171
POLR2M	81488	broad.mit.edu	37	15	58006834	58006835	+	In_Frame_Ins	INS	-	-	ATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:58006834_58006835insATC	ENST00000299638.3	+	4	1278_1279	c.1064_1065insATC	c.(1063-1068)gaagta>gaATCagta	p.355_356EV>ESV	GCOM1_ENST00000587652.1_In_Frame_Ins_p.752_753EV>ESV|GCOM1_ENST00000380569.2_In_Frame_Ins_p.537_538EV>ESV|POLR2M_ENST00000380557.4_In_Frame_Ins_p.198_199EV>ESV|GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380568.3_3'UTR	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	355					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										AGATACCGAGAAGTAAGGGATG	0.406																																						ENST00000299638.3		NA																	0					NA						c.(1063-1068)gaagta>gaATCagta		polymerase (RNA) II (DNA directed) polypeptide M																																				SO:0001652	inframe_insertion	81488							g.chr15:58006834_58006835insATC	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	Exception_encountered	15.37:g.58006834_58006835insATC	ENSP00000299638:p.Glu355_Val356insSer	False	False		Somatic	0				POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_In_Frame_Ins_p.198_199EV>ESV|GCOM1_ENST00000380568.3_3'UTR|GCOM1_ENST00000380569.2_In_Frame_Ins_p.537_538EV>ESV|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_In_Frame_Ins_p.752_753EV>ESV	p.355_356EV>ESV	NM_015532.3	NP_056347.1	WXS	Illumina HiSeq	Phase_I					4	1278_1279	+			NA					Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	In_Frame_Ins	INS	ENST00000299638.3	37	c.1064_1065insATC	CCDS32252.1																																																																																				0.406	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2	0			15:58006834
POLR2M	81488	broad.mit.edu	37	15	58006836	58006837	+	In_Frame_Ins	INS	-	-	CAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:58006836_58006837insCAA	ENST00000299638.3	+	4	1280_1281	c.1066_1067insCAA	c.(1066-1068)gta>gCAAta	p.356_356V>AI	GCOM1_ENST00000587652.1_In_Frame_Ins_p.753_753V>AI|GCOM1_ENST00000380569.2_In_Frame_Ins_p.538_538V>AI|POLR2M_ENST00000380557.4_In_Frame_Ins_p.199_199V>AI|GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380568.3_3'UTR	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	356					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										ATACCGAGAAGTAAGGGATGAA	0.406																																						ENST00000299638.3		NA																	0					NA						c.(1066-1068)gta>gCAAta		polymerase (RNA) II (DNA directed) polypeptide M																																				SO:0001652	inframe_insertion	81488							g.chr15:58006836_58006837insCAA	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	Exception_encountered	15.37:g.58006836_58006837insCAA	ENSP00000299638:p.Val356delinsAlaIle	False	False		Somatic	0				POLR2M_ENST00000380563.2_Intron|POLR2M_ENST00000380557.4_In_Frame_Ins_p.199_199V>AI|GCOM1_ENST00000380568.3_3'UTR|GCOM1_ENST00000380569.2_In_Frame_Ins_p.538_538V>AI|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_In_Frame_Ins_p.753_753V>AI	p.356_356V>AI	NM_015532.3	NP_056347.1	WXS	Illumina HiSeq	Phase_I					4	1280_1281	+			NA					Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	In_Frame_Ins	INS	ENST00000299638.3	37	c.1066_1067insCAA	CCDS32252.1																																																																																				0.406	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2	0			15:58006836
GLCE	26035	broad.mit.edu	37	15	69548620	69548621	+	Frame_Shift_Ins	INS	-	-	GAAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:69548620_69548621insGAAG	ENST00000261858.2	+	3	703_704	c.475_476insGAAG	c.(475-477)tccfs	p.-158fs	GLCE_ENST00000559420.2_Frame_Shift_Ins_p.-94fs	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATAGCTATTCCAAAGTCTAT	0.416																																						ENST00000559420.2		NA																	0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(283-285)tccfs		glucuronic acid epimerase																																				SO:0001589	frameshift_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69548620_69548621insGAAG	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		Exception_encountered	15.37:g.69548620_69548621insGAAG	ENSP00000261858:p.Tyr158fs	False	False		Somatic	0				GLCE_ENST00000261858.2_Frame_Shift_Ins_p.-158fs	p.-94fs			WXS	Illumina HiSeq	Phase_I	O94923	GLCE_HUMAN			1	488_489	+			NA					Q6GUQ2	Frame_Shift_Ins	INS	ENST00000261858.2	37	c.283_284insGAAG	CCDS32277.1																																																																																				0.416	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_015554		15:69548620
GLYR1	84656	broad.mit.edu	37	16	4861283	4861284	+	Frame_Shift_Ins	INS	-	-	TTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:4861283_4861284insTTTTT	ENST00000321919.9	-	15	1550_1551	c.1474_1475insAAAAA	c.(1474-1476)ggafs	p.G492fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.G486fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.G475fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.G411fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	492					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.G492*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTAAAGTTTCCTTGCAGGATA	0.46																																						ENST00000321919.9		NA																	1	Substitution - Nonsense(1)	p.G492*(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1474-1476)ggafs		glyoxylate reductase 1 homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4861283_4861284insTTTTT	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1474_1475insAAAAA	16.37:g.4861283_4861284insTTTTT	ENSP00000322716:p.Gly492fs	False	False		Somatic	0				GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.G486fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.G475fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.G411fs	p.G492fs	NM_032569.3	NP_115958.2	WXS	Illumina HiSeq	Phase_I	Q49A26	GLYR1_HUMAN			15	1550_1551	-			492					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Ins	INS	ENST00000321919.9	37	c.1474_1475insAAAAA	CCDS10524.1																																																																																				0.460	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	0	NM_032569		16:4861283
GLYR1	84656	broad.mit.edu	37	16	4861284	4861285	+	Frame_Shift_Ins	INS	-	-	TTTCTTTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:4861284_4861285insTTTCTTTTTT	ENST00000321919.9	-	15	1549_1550	c.1473_1474insAAAAAAGAAA	c.(1471-1476)caaggafs	p.G492fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.G486fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.G475fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.G411fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	492					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.G492*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTAAAGTTTCCTTGCAGGATAT	0.46																																						ENST00000321919.9		NA																	1	Substitution - Nonsense(1)	p.G492*(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1471-1476)caaggafs		glyoxylate reductase 1 homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4861284_4861285insTTTCTTTTTT	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1473_1474insAAAAAAGAAA	16.37:g.4861284_4861285insTTTCTTTTTT	ENSP00000322716:p.Gly492fs	False	False		Somatic	0				GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.G486fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.G475fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.G411fs	p.G492fs	NM_032569.3	NP_115958.2	WXS	Illumina HiSeq	Phase_I	Q49A26	GLYR1_HUMAN			15	1549_1550	-			492					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Ins	INS	ENST00000321919.9	37	c.1473_1474insAAAAAAGAAA	CCDS10524.1																																																																																				0.460	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	0	NM_032569		16:4861284
C1orf112	55732	broad.mit.edu	37	1	169822098	169822100	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GCT	GCT	-	-	GCT	GCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:169822098_169822100delGCT	ENST00000286031.6	+	24	3232_3234	c.2532_2534delGCT	c.(2530-2535)aagcta>aaa	p.L845del	SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_In_Frame_Del_p.L845del|SCYL3_ENST00000367772.4_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	845										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGATGGATAAGCTAAAACGTTAC	0.433																																						ENST00000286031.6		NA																	0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(2530-2535)aagcta>aaa		chromosome 1 open reading frame 112																																				SO:0001651	inframe_deletion	55732							g.chr1:169822098_169822100delGCT	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2532_2534delGCT	1.37:g.169822098_169822100delGCT	ENSP00000286031:p.Leu845del	False	False		Somatic	1				C1orf112_ENST00000359326.4_In_Frame_Del_p.L845del|C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367772.4_3'UTR	p.L845del	NM_018186.2	NP_060656.2	WXS	Illumina HiSeq	Phase_I	Q9NSG2	CA112_HUMAN			24	3232_3234	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		845					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	In_Frame_Del	DEL	ENST00000286031.6	37	c.2532_2534delGCT	CCDS1285.1																																																																																				0.433	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	0	NM_018186		1:169822098
KLHL20	27252	broad.mit.edu	37	1	173726276	173726277	+	In_Frame_Ins	INS	-	-	ATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173726276_173726277insATC	ENST00000209884.4	+	7	1265_1266	c.1129_1130insATC	c.(1129-1131)tct>tATCct	p.377_377S>YP	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_188S>YP	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGATGGATCCTCTTATCTCAAT	0.371																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4		NA																	0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1129-1131)tct>tATCct		kelch-like family member 20																																				SO:0001652	inframe_insertion	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173726276_173726277insATC	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	Exception_encountered	1.37:g.173726276_173726277insATC	ENSP00000209884:p.Ser377delinsTyrPro	False	False		Somatic	0				KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_188S>YP	p.377_377S>YP	NM_014458.3	NP_055273.2	WXS	Illumina HiSeq	Phase_I	Q9Y2M5	KLH20_HUMAN			7	1265_1266	+			377					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	In_Frame_Ins	INS	ENST00000209884.4	37	c.1129_1130insATC	CCDS1310.1																																																																																				0.371	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	0	NM_014458		1:173726276
KLHL20	27252	broad.mit.edu	37	1	173726278	173726279	+	In_Frame_Ins	INS	-	-	GAAGCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173726278_173726279insGAAGCA	ENST00000209884.4	+	7	1267_1268	c.1131_1132insGAAGCA	c.(1132-1134)tat>GAAGCAtat	p.377_378insEA	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_189insEA	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATGGATCCTCTTATCTCAATAG	0.366																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4		NA																	0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1132-1134)tat>GAAGCAtat		kelch-like family member 20																																				SO:0001652	inframe_insertion	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173726278_173726279insGAAGCA	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	Exception_encountered	1.37:g.173726278_173726279insGAAGCA	ENSP00000209884:p.Ser377_Tyr378insGluAla	False	False		Somatic	0				KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_189insEA	p.377_378insEA	NM_014458.3	NP_055273.2	WXS	Illumina HiSeq	Phase_I	Q9Y2M5	KLH20_HUMAN			7	1267_1268	+			377					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	In_Frame_Ins	INS	ENST00000209884.4	37	c.1131_1132insGAAGCA	CCDS1310.1																																																																																				0.366	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	0	NM_014458		1:173726278
CENPL	91687	broad.mit.edu	37	1	173776634	173776635	+	In_Frame_Ins	INS	-	-	AGGGAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173776634_173776635insAGGGAC	ENST00000345664.6	-	3	403_404	c.190_191insGTCCCT	c.(190-192)gtt>gGTCCCTtt	p.64_64V>GPF	CENPL_ENST00000356198.2_In_Frame_Ins_p.64_64V>GPF|CENPL_ENST00000367710.3_In_Frame_Ins_p.64_64V>GPF|Y_RNA_ENST00000516548.1_RNA	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	64					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGGAATGCAACCTTTTGAGGG	0.287																																						ENST00000356198.2		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(190-192)gtt>gGTCCCTtt		centromere protein L																																				SO:0001652	inframe_insertion	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173776634_173776635insAGGGAC	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.190_191insGTCCCT	1.37:g.173776634_173776635insAGGGAC	ENSP00000323543:p.Val64delinsGlyProPhe	False	False		Somatic	0				CENPL_ENST00000345664.6_In_Frame_Ins_p.64_64V>GPF|CENPL_ENST00000367710.3_In_Frame_Ins_p.64_64V>GPF	p.64_64V>GPF	NM_001127181.2	NP_001120653.1	WXS	Illumina HiSeq	Phase_I	Q8N0S6	CENPL_HUMAN			4	475_476	-			64					Q5TEL5|Q96ND4	In_Frame_Ins	INS	ENST00000345664.6	37	c.190_191insGTCCCT	CCDS30938.1																																																																																				0.287	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	0	NM_033319		1:173776634
ZBTB37	84614	broad.mit.edu	37	1	173835779	173835780	+	5'Flank	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173835779_173835780insT	ENST00000367701.5	+	0	0				GAS5_ENST00000365524.1_RNA|GAS5_ENST00000385578.2_RNA|GAS5-AS1_ENST00000602767.1_RNA|GAS5_ENST00000363840.1_RNA|GAS5_ENST00000364822.2_RNA|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000363859.1_RNA|ZBTB37_ENST00000367702.1_5'Flank|ZBTB37_ENST00000427304.1_5'Flank|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_5'Flank|GAS5_ENST00000363146.1_RNA|ZBTB37_ENST00000432989.1_5'Flank			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GGGTGCCTCAGTTAAGATAATG	0.416																																						ENST00000363146.1		NA																	0					NA																																												SO:0001631	upstream_gene_variant	0							g.chr1:173835779_173835780insT	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173835781_173835781dupT	Exception_encountered	False	False		Somatic	2						NR_003942.1		WXS	Illumina HiSeq	Phase_I					0	73_74	-			NA					Q5TC80|Q96M87|Q9BQ88	RNA	INS	ENST00000367701.5	37		CCDS44278.1																																																																																				0.416	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	0	NM_032522		1:173835779
MKL2	57496	broad.mit.edu	37	16	14334575	14334576	+	Intron	INS	-	-	AAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:14334575_14334576insAAAAT	ENST00000341243.5	+	8	1046				MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000573051.1_Frame_Shift_Ins_p.A344fs|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2						blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTTAGAAATGCCTTTTCACAA	0.371																																						ENST00000573051.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1030-1032)gccfs		MKL/myocardin-like 2																																				SO:0001627	intron_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14334575_14334576insAAAAT	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1046+234->AAAAT	16.37:g.14334575_14334576insAAAAT		False	False		Somatic	0				MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron	p.A344fs			WXS	Illumina HiSeq	Phase_I	Q9ULH7	MKL2_HUMAN			9	1188_1189	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Ins	INS	ENST00000341243.5	37	c.1030_1031insAAAAT																																																																																					0.371	MKL2-202	KNOWN	basic	protein_coding	protein_coding		0	NM_014048		16:14334575
MKL2	57496	broad.mit.edu	37	16	14334576	14334577	+	Intron	INS	-	-	ATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	rs189337164		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:14334576_14334577insATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	ENST00000341243.5	+	8	1046				MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000573051.1_In_Frame_Ins_p.344_345AF>ALLSTNK*QHSTFGNF|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2						blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTAGAAATGCCTTTTCACAAT	0.371																																						ENST00000573051.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1030-1035)gccttt>gcATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAActtt		MKL/myocardin-like 2																																				SO:0001627	intron_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14334576_14334577insATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1046+235->ATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	16.37:g.14334576_14334577insATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA		True	False		Somatic	0				MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron	p.344_345AF>ALLSTNK*QHSTFGNF			WXS	Illumina HiSeq	Phase_I	Q9ULH7	MKL2_HUMAN			9	1189_1190	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	In_Frame_Ins	INS	ENST00000341243.5	37	c.1031_1032insATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA																																																																																					0.371	MKL2-202	KNOWN	basic	protein_coding	protein_coding		0	NM_014048		16:14334576
C16orf87	388272	broad.mit.edu	37	16	46836909	46836910	+	Frame_Shift_Ins	INS	-	-	TGTCGTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:46836909_46836910insTGTCGTTT	ENST00000285697.4	-	4	680_681	c.419_420insAAACGACA	c.(418-420)ttgfs	p.-140fs	C16orf87_ENST00000394806.2_Frame_Shift_Ins_p.-79fs|C16orf87_ENST00000564250.1_5'Flank	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87											large_intestine(4)|urinary_tract(1)	5						TTATTTCTGCCAAGGCGACTGA	0.337																																						ENST00000394806.2		NA																	0				large_intestine(4)|urinary_tract(1)	5						c.(235-237)ttgfs		chromosome 16 open reading frame 87																																				SO:0001589	frameshift_variant	388272							g.chr16:46836909_46836910insTGTCGTTT		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.419_420insAAACGACA	16.37:g.46836909_46836910insTGTCGTTT	ENSP00000285697:p.Leu140fs	False	False		Somatic	0				C16orf87_ENST00000285697.4_Frame_Shift_Ins_p.-140fs	p.-79fs			WXS	Illumina HiSeq	Phase_I	Q6PH81	CP087_HUMAN			3	248_249	-			NA					Q63HN9	Frame_Shift_Ins	INS	ENST00000285697.4	37	c.236_237insAAACGACA	CCDS10724.1																																																																																				0.337	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	0	NM_001001436		16:46836909
BRD7	29117	broad.mit.edu	37	16	50367590	50367592	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:50367590_50367592delAAG	ENST00000394688.3	-	8	1063_1065	c.904_906delCTT	c.(904-906)cttdel	p.L302del	BRD7_ENST00000394689.2_In_Frame_Del_p.L302del			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	302					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ACTTATCTTCAAGCATATCTTTG	0.335																																						ENST00000394688.3		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(904-906)cttdel		bromodomain containing 7																																				SO:0001651	inframe_deletion	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50367590_50367592delAAG	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.904_906delCTT	16.37:g.50367590_50367592delAAG	ENSP00000378180:p.Leu302del	False	False		Somatic	1				BRD7_ENST00000394689.2_In_Frame_Del_p.L302del	p.L302del			WXS	Illumina HiSeq	Phase_I	Q9NPI1	BRD7_HUMAN			8	1063_1065	-		all_cancers(37;0.0127)	302					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	In_Frame_Del	DEL	ENST00000394688.3	37	c.904_906delCTT	CCDS10742.1																																																																																				0.335	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	0	NM_013263		16:50367590
SALL1	6299	broad.mit.edu	37	16	51172999	51173000	+	Frame_Shift_Ins	INS	-	-	CCCTGCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:51172999_51173000insCCCTGCTC	ENST00000251020.4	-	2	3166_3167	c.3133_3134insGAGCAGGG	c.(3133-3135)aagfs	p.K1045fs	SALL1_ENST00000440970.1_Frame_Shift_Ins_p.K948fs|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1045					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|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 (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CATGTGCTGCTTCAAATTACCC	0.475																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000251020.4		NA																	0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3133-3135)aagfs		spalt-like transcription factor 1																																				SO:0001589	frameshift_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172999_51173000insCCCTGCTC	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3133_3134insGAGCAGGG	16.37:g.51172999_51173000insCCCTGCTC	ENSP00000251020:p.Lys1045fs	False	False		Somatic	0				SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Frame_Shift_Ins_p.K948fs	p.K1045fs	NM_002968.2	NP_002959.2	WXS	Illumina HiSeq	Phase_I	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3166_3167	-		all_cancers(37;0.0322)	1045					Q99881|Q9NSC3|Q9P1R0	Frame_Shift_Ins	INS	ENST00000251020.4	37	c.3133_3134insGAGCAGGG	CCDS10747.1																																																																																				0.475	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	0	NM_002968		16:51172999
RLTPR	146206	broad.mit.edu	37	16	67686232	67686234	+	In_Frame_Del	DEL	AGA	AGA	-	rs144268948|rs374451388	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67686232_67686234delAGA	ENST00000334583.6	+	27	3135_3137	c.2807_2809delAGA	c.(2806-2811)gagaag>gag	p.K937del	RLTPR_ENST00000545661.1_In_Frame_Del_p.K901del	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	937	Pro-rich.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		aaggaagaggagaaggagaaggT	0.557														94	0.01877	0.0386	0.0072	5008	,	,		21345	0.0		0.007	False		,,,				2504	0.0317					ENST00000334583.6		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2806-2811)gagaag>gag		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing				136,3630		7,122,1754						2.3	0.1		dbSNP_134	56	78,7872		4,70,3901	no	coding	RLTPR	NM_001013838.1		11,192,5655	A1A1,A1R,RR		0.9811,3.6113,1.8266				214,11502				SO:0001651	inframe_deletion	146206							g.chr16:67686232_67686234delAGA	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2807_2809delAGA	16.37:g.67686232_67686234delAGA	ENSP00000334958:p.Lys937del	True	False		Somatic	1				RLTPR_ENST00000545661.1_In_Frame_Del_p.K901del	p.K937del	NM_001013838.1	NP_001013860.1	WXS	Illumina HiSeq	Phase_I	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	27	3135_3137	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	937			Pro-rich.		B8X2Z3	In_Frame_Del	DEL	ENST00000334583.6	37	c.2807_2809delAGA	CCDS45513.1																																																																																				0.557	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	0	NM_001013838		16:67686232
DNAH9	1770	broad.mit.edu	37	17	11593732	11593733	+	Frame_Shift_Ins	INS	-	-	GAACTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:11593732_11593733insGAACTTG	ENST00000262442.4	+	20	4661_4662	c.4593_4594insGAACTTG	c.(4594-4596)attfs	p.I1532fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.I1532fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1532	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCTGAAGATATTCGGGCACA	0.49																																						ENST00000454412.2		NA																	0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(4594-4596)attfs		dynein, axonemal, heavy chain 9																																				SO:0001589	frameshift_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593732_11593733insGAACTTG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	Exception_encountered	17.37:g.11593732_11593733insGAACTTG	ENSP00000262442:p.Ile1532fs	False	False		Somatic	0				DNAH9_ENST00000262442.3_Frame_Shift_Ins_p.I1532fs	p.I1532fs			WXS	Illumina HiSeq	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4593_4594	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1532			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Ins	INS	ENST00000262442.4	37	c.4593_4594insGAACTTG	CCDS11160.1																																																																																				0.490	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	0	NM_001372		17:11593732
ZNF286A	57335	broad.mit.edu	37	17	15609784	15609785	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:15609784_15609785insCA	ENST00000464847.2	+	3	763_764	c.210_211insCA	c.(211-213)ctgfs	p.L71fs	ZNF286A_ENST00000585194.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000593105.1_Frame_Shift_Ins_p.L61fs|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000583566.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000395894.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000421016.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000395893.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000413242.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000472486.1_Frame_Shift_Ins_p.L61fs			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGGATGTGATGCTGGAGAACTA	0.401																																						ENST00000464847.2		NA																	0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(211-213)ctgfs		zinc finger protein 286A																																				SO:0001589	frameshift_variant	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15609784_15609785insCA	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	Exception_encountered	17.37:g.15609784_15609785insCA	ENSP00000464218:p.Leu71fs	False	False		Somatic	0				ZNF286A_ENST00000585194.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000593105.1_Frame_Shift_Ins_p.L61fs|ZNF286A_ENST00000395894.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000395893.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000583566.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000413242.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000421016.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000472486.1_Frame_Shift_Ins_p.L61fs	p.L71fs			WXS	Illumina HiSeq	Phase_I	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	3	763_764	+			71			KRAB.		B4DKF9|Q96JF3	Frame_Shift_Ins	INS	ENST00000464847.2	37	c.210_211insCA	CCDS11172.1																																																																																				0.401	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	0	NM_020652		17:15609784
ZNF286A	57335	broad.mit.edu	37	17	15609786	15609787	+	Frame_Shift_Ins	INS	-	-	TAAGAGG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:15609786_15609787insTAAGAGG	ENST00000464847.2	+	3	765_766	c.212_213insTAAGAGG	c.(211-216)ctggagfs	p.E72fs	ZNF286A_ENST00000585194.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000593105.1_Frame_Shift_Ins_p.E62fs|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000583566.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000395894.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000421016.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000395893.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000413242.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000472486.1_Frame_Shift_Ins_p.E62fs			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GATGTGATGCTGGAGAACTATA	0.401																																						ENST00000464847.2		NA																	0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(211-216)ctggagfs		zinc finger protein 286A																																				SO:0001589	frameshift_variant	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15609786_15609787insTAAGAGG	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	Exception_encountered	17.37:g.15609786_15609787insTAAGAGG	ENSP00000464218:p.Glu72fs	False	False		Somatic	0				ZNF286A_ENST00000585194.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000593105.1_Frame_Shift_Ins_p.E62fs|ZNF286A_ENST00000395894.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000395893.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000583566.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000413242.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000421016.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000472486.1_Frame_Shift_Ins_p.E62fs	p.E72fs			WXS	Illumina HiSeq	Phase_I	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	3	765_766	+			72			KRAB.		B4DKF9|Q96JF3	Frame_Shift_Ins	INS	ENST00000464847.2	37	c.212_213insTAAGAGG	CCDS11172.1																																																																																				0.401	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	0	NM_020652		17:15609786
MR1	3140	broad.mit.edu	37	1	181019221	181019222	+	Frame_Shift_Ins	INS	-	-	TCAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:181019221_181019222insTCAC	ENST00000367580.5	+	3	408_409	c.403_404insTCAC	c.(403-405)gcafs	p.A135fs	MR1_ENST00000434571.2_Frame_Shift_Ins_p.A135fs|MR1_ENST00000367579.3_Intron|MR1_ENST00000282990.6_Frame_Shift_Ins_p.A135fs|MR1_ENST00000438435.2_3'UTR	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	135	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	TCTGCAGTATGCATATGACGGG	0.515																																					Colon(174;1412 1962 45296 46549 47110)	ENST00000367580.5		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(403-405)gcafs		major histocompatibility complex, class I-related																																				SO:0001589	frameshift_variant	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181019221_181019222insTCAC	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	Exception_encountered	1.37:g.181019221_181019222insTCAC	ENSP00000356552:p.Ala135fs	False	False		Somatic	0				MR1_ENST00000434571.2_Frame_Shift_Ins_p.A135fs|MR1_ENST00000282990.6_Frame_Shift_Ins_p.A135fs|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron	p.A135fs	NM_001531.2	NP_001522.1	WXS	Illumina HiSeq	Phase_I	Q95460	HMR1_HUMAN			3	408_409	+			135			Alpha-2.|Ligand-binding.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Frame_Shift_Ins	INS	ENST00000367580.5	37	c.403_404insTCAC	CCDS1342.1																																																																																				0.515	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	0	NM_001531		1:181019221
ATAD5	79915	broad.mit.edu	37	17	29161911	29161912	+	Frame_Shift_Ins	INS	-	-	TGTGGTCCCTTGTTTAGGATTTACTTTTTTAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:29161911_29161912insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	ENST00000321990.4	+	2	1190_1191	c.812_813insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	c.(811-816)ttaaaafs	p.LK271fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	271					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAGGAATTTTTAAAAAGTCACA	0.351																																						ENST00000321990.4		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(811-816)ttaaaafs		ATPase family, AAA domain containing 5																																				SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161911_29161912insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	Exception_encountered	17.37:g.29161911_29161912insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	ENSP00000313171:p.Leu271fs	True	False		Somatic	0				CTD-2349P21.11_ENST00000580873.1_RNA	p.LK271fs	NM_024857.3	NP_079133.3	WXS	Illumina HiSeq	Phase_I	Q96QE3	ATAD5_HUMAN			2	1190_1191	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	271					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Ins	INS	ENST00000321990.4	37	c.812_813insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	CCDS11260.1																																																																																				0.351	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	0	NM_024857		17:29161911
EVI2B	2124	broad.mit.edu	37	17	29632121	29632122	+	Frame_Shift_Ins	INS	-	-	AGCTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:29632121_29632122insAGCTA	ENST00000330927.4	-	2	660_661	c.506_507insTAGCT	c.(505-507)caafs	p.Q169fs	EVI2B_ENST00000544462.1_Frame_Shift_Ins_p.Q184fs|EVI2B_ENST00000577894.1_Frame_Shift_Ins_p.Q169fs|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	169						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGATGTTGGTTGTGTGGATGG	0.342																																						ENST00000330927.4		NA																	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(505-507)caafs		ecotropic viral integration site 2B																																				SO:0001589	frameshift_variant	2124					cytoplasm|integral to plasma membrane		g.chr17:29632121_29632122insAGCTA		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.506_507insTAGCT	17.37:g.29632121_29632122insAGCTA	ENSP00000333779:p.Gln169fs	True	False		Somatic	0				EVI2B_ENST00000577894.1_Frame_Shift_Ins_p.Q169fs|EVI2B_ENST00000544462.1_Frame_Shift_Ins_p.Q184fs|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.Q169fs	NM_006495.3	NP_006486.3	WXS	Illumina HiSeq	Phase_I	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	660_661	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	169					B7Z4A7	Frame_Shift_Ins	INS	ENST00000330927.4	37	c.506_507insTAGCT	CCDS11266.1																																																																																				0.342	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	0	NM_006495		17:29632121
SUZ12	23512	broad.mit.edu	37	17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAATGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:30322748_30322749insAAATAAATGTT	ENST00000322652.5	+	14	1990_1991	c.1761_1762insAAATAAATGTT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGATGAAAAGGATCCTGAATG	0.327			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5		NA		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1762-1764)gatfs		SUZ12 polycomb repressive complex 2 subunit																																				SO:0001589	frameshift_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30322748_30322749insAAATAAATGTT	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	Exception_encountered	17.37:g.30322748_30322749insAAATAAATGTT	ENSP00000316578:p.Asp588fs	False	False		Somatic	0				SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	p.D588fs	NM_015355.2	NP_056170.2	WXS	Illumina HiSeq	Phase_I	Q15022	SUZ12_HUMAN			14	1990_1991	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	588			VEFS-box.		Q96BD9	Frame_Shift_Ins	INS	ENST00000322652.5	37	c.1761_1762insAAATAAATGTT	CCDS11270.1																																																																																				0.327	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	0	NM_015355		17:30322748
SUZ12	23512	broad.mit.edu	37	17	30322750	30322751	+	Frame_Shift_Ins	INS	-	-	TTTATGGCCTCTACATG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:30322750_30322751insTTTATGGCCTCTACATG	ENST00000322652.5	+	14	1992_1993	c.1763_1764insTTTATGGCCTCTACATG	c.(1762-1767)gatcctfs	p.P589fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.P566fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	589	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GATGAAAAGGATCCTGAATGGC	0.327			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5		NA		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1762-1767)gatcctfs		SUZ12 polycomb repressive complex 2 subunit																																				SO:0001589	frameshift_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30322750_30322751insTTTATGGCCTCTACATG	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	Exception_encountered	17.37:g.30322750_30322751insTTTATGGCCTCTACATG	ENSP00000316578:p.Pro589fs	False	False		Somatic	0				SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.P566fs	p.P589fs	NM_015355.2	NP_056170.2	WXS	Illumina HiSeq	Phase_I	Q15022	SUZ12_HUMAN			14	1992_1993	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	589			VEFS-box.		Q96BD9	Frame_Shift_Ins	INS	ENST00000322652.5	37	c.1763_1764insTTTATGGCCTCTACATG	CCDS11270.1																																																																																				0.327	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	0	NM_015355		17:30322750
TNS4	84951	broad.mit.edu	37	17	38643522	38643523	+	Frame_Shift_Ins	INS	-	-	GTTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:38643522_38643523insGTTTC	ENST00000254051.6	-	4	1211_1212	c.1053_1054insGAAAC	c.(1051-1056)ccaccafs	p.P352fs		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	352					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTGGCCAGTGGTGGAGAGTGGG	0.584																																						ENST00000254051.6		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1051-1056)ccaccafs		tensin 4																																				SO:0001589	frameshift_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38643522_38643523insGTTTC	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1053_1054insGAAAC	17.37:g.38643522_38643523insGTTTC	ENSP00000254051:p.Pro352fs	False	False		Somatic	0					p.P352fs	NM_032865.5	NP_116254.4	WXS	Illumina HiSeq	Phase_I	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		4	1211_1212	-		Breast(137;0.000496)	352					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Frame_Shift_Ins	INS	ENST00000254051.6	37	c.1053_1054insGAAAC	CCDS11368.1																																																																																				0.584	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	0	NM_032865		17:38643522
EZH1	2145	broad.mit.edu	37	17	40870623	40870624	+	In_Frame_Ins	INS	-	-	TGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:40870623_40870624insTGA	ENST00000428826.2	-	9	900_901	c.779_780insTCA	c.(778-780)cta>ctTCAa	p.260_261insQ	EZH1_ENST00000415827.2_In_Frame_Ins_p.251_252insQ|EZH1_ENST00000435174.1_In_Frame_Ins_p.121_122insQ|EZH1_ENST00000590078.1_In_Frame_Ins_p.190_191insQ|EZH1_ENST00000592743.1_In_Frame_Ins_p.260_261insQ|EZH1_ENST00000585893.1_In_Frame_Ins_p.220_221insQ			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	260					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACATCTCTGTTAGTTCTCGATA	0.505																																						ENST00000590078.1		NA																	0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(568-570)cta>ctTCAa		enhancer of zeste homolog 1 (Drosophila)																																				SO:0001652	inframe_insertion	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40870623_40870624insTGA		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.779_780insTCA	17.37:g.40870623_40870624insTGA	ENSP00000404658:p.Leu260_Thr261insGln	False	False		Somatic	0				EZH1_ENST00000415827.2_In_Frame_Ins_p.251_252insQ|EZH1_ENST00000435174.1_In_Frame_Ins_p.121_122insQ|EZH1_ENST00000592743.1_In_Frame_Ins_p.260_261insQ|EZH1_ENST00000585893.1_In_Frame_Ins_p.220_221insQ|EZH1_ENST00000428826.2_In_Frame_Ins_p.260_261insQ	p.190_191insQ			WXS	Illumina HiSeq	Phase_I	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	8	779_780	-		Breast(137;0.00104)	260					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	In_Frame_Ins	INS	ENST00000428826.2	37	c.569_570insTCA	CCDS32659.1																																																																																				0.505	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	0	NM_001991		17:40870623
GPATCH8	23131	broad.mit.edu	37	17	42475080	42475081	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:42475080_42475081insGA	ENST00000591680.1	-	8	4394_4395	c.4364_4365insTC	c.(4363-4365)cacfs	p.H1455fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.H1377fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1455							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGGGACAGGGTGAAAGGTGAA	0.594																																						ENST00000591680.1		NA																	0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(4363-4365)cacfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475080_42475081insGA	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4364_4365insTC	17.37:g.42475080_42475081insGA	ENSP00000467556:p.His1455fs	True	False		Somatic	0				GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.H1377fs	p.H1455fs	NM_001002909.2	NP_001002909.1	WXS	Illumina HiSeq	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	4394_4395	-		Prostate(33;0.0181)	1455					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.4364_4365insTC	CCDS32666.1																																																																																				0.594	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	0	NM_001002909		17:42475080
KPNB1	3837	broad.mit.edu	37	17	45758029	45758030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:45758029_45758030insG	ENST00000290158.4	+	21	3031_3032	c.2624_2625insG	c.(2623-2628)caagctfs	p.A876fs	KPNB1_ENST00000537679.1_Frame_Shift_Ins_p.A660fs|KPNB1_ENST00000535458.2_Frame_Shift_Ins_p.A731fs|KPNB1_ENST00000540627.1_Frame_Shift_Ins_p.A731fs|RP11-138C9.1_ENST00000578482.1_RNA	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	876					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTGAAGAACCAAGCTTGGTAAG	0.46																																						ENST00000540627.1		NA																	0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(2188-2193)caagctfs		karyopherin (importin) beta 1																																				SO:0001589	frameshift_variant	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45758029_45758030insG	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	Exception_encountered	17.37:g.45758029_45758030insG	ENSP00000290158:p.Ala876fs	False	False		Somatic	0				KPNB1_ENST00000290158.4_Frame_Shift_Ins_p.A876fs|KPNB1_ENST00000537679.1_Frame_Shift_Ins_p.A660fs|KPNB1_ENST00000535458.2_Frame_Shift_Ins_p.A731fs	p.A731fs			WXS	Illumina HiSeq	Phase_I	Q14974	IMB1_HUMAN			20	2706_2707	+			876					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Frame_Shift_Ins	INS	ENST00000290158.4	37	c.2189_2190insG	CCDS11513.1																																																																																				0.460	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	0	NM_002265		17:45758029
INTS2	57508	broad.mit.edu	37	17	59969014	59969015	+	Frame_Shift_Ins	INS	-	-	TTCTTTTATATCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:59969014_59969015insTTCTTTTATATCT	ENST00000444766.3	-	14	1833_1834	c.1758_1759insAGATATAAAAGAA	c.(1756-1761)actccafs	p.P587fs	INTS2_ENST00000251334.6_Frame_Shift_Ins_p.P579fs	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	587					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GGATGAAGTGGAGTAGAGGTTT	0.351																																						ENST00000251334.6		NA																	0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(1732-1737)actccafs		integrator complex subunit 2																																				SO:0001589	frameshift_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59969014_59969015insTTCTTTTATATCT	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1758_1759insAGATATAAAAGAA	17.37:g.59969014_59969015insTTCTTTTATATCT	ENSP00000414237:p.Pro587fs	False	False		Somatic	0				INTS2_ENST00000444766.3_Frame_Shift_Ins_p.P587fs	p.P579fs			WXS	Illumina HiSeq	Phase_I	Q9H0H0	INT2_HUMAN			14	2089_2090	-			587					Q9ULD3	Frame_Shift_Ins	INS	ENST00000444766.3	37	c.1734_1735insAGATATAAAAGAA	CCDS45750.1																																																																																				0.351	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	0	NM_020748		17:59969014
LRRC37A3	374819	broad.mit.edu	37	17	62856364	62856365	+	In_Frame_Ins	INS	-	-	GTATCTGCTCCT	rs200119700		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:62856364_62856365insGTATCTGCTCCT	ENST00000584306.1	-	11	4429_4430	c.3899_3900insAGGAGCAGATAC	c.(3898-3900)cat>caAGGAGCAGATACt	p.1300_1300H>QGADT	LRRC37A3_ENST00000400877.3_In_Frame_Ins_p.338_338H>QGADT|LRRC37A3_ENST00000339474.5_In_Frame_Ins_p.418_418H>QGADT|LRRC37A3_ENST00000319651.5_In_Frame_Ins_p.1300_1300H>QGADT|LRRC37A3_ENST00000334962.5_In_Frame_Ins_p.277_277H>QGADT	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1300						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTTTCTGGAATGTACGATGGG	0.411																																						ENST00000584306.1		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3898-3900)cat>caAGGAGCAGATACt		leucine rich repeat containing 37, member A3																																				SO:0001652	inframe_insertion	374819					integral to membrane		g.chr17:62856364_62856365insGTATCTGCTCCT	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3899_3900insAGGAGCAGATAC	17.37:g.62856364_62856365insGTATCTGCTCCT	ENSP00000464535:p.His1300delinsGlnGlyAlaAspThr	False	False		Somatic	0				LRRC37A3_ENST00000319651.5_In_Frame_Ins_p.1300_1300H>QGADT|LRRC37A3_ENST00000339474.5_In_Frame_Ins_p.418_418H>QGADT|LRRC37A3_ENST00000400877.3_In_Frame_Ins_p.338_338H>QGADT|LRRC37A3_ENST00000334962.5_In_Frame_Ins_p.277_277H>QGADT	p.1300_1300H>QGADT	NM_199340.2	NP_955372.2	WXS	Illumina HiSeq	Phase_I	O60309	L37A3_HUMAN			11	4429_4430	-			1300					Q49A01|Q49A80|Q8NB33	In_Frame_Ins	INS	ENST00000584306.1	37	c.3899_3900insAGGAGCAGATAC	CCDS32708.1																																																																																				0.411	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	0	NM_199340		17:62856364
HELZ	9931	broad.mit.edu	37	17	65103458	65103459	+	Frame_Shift_Ins	INS	-	-	AAAAATATCAGTATTTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:65103458_65103459insAAAAATATCAGTATTTA	ENST00000358691.5	-	31	5233_5234	c.5067_5068insTAAATACTGATATTTTT	c.(5065-5070)caacagfs	p.Q1690fs	HELZ_ENST00000580168.1_Frame_Shift_Ins_p.Q1691fs	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1690						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGTGATTCTGTTGCAAGTTAG	0.485																																						ENST00000358691.5		NA																	0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5065-5070)caacagfs		helicase with zinc finger																																				SO:0001589	frameshift_variant	9931							g.chr17:65103458_65103459insAAAAATATCAGTATTTA	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5067_5068insTAAATACTGATATTTTT	17.37:g.65103458_65103459insAAAAATATCAGTATTTA	ENSP00000351524:p.Gln1690fs	False	False		Somatic	0				HELZ_ENST00000580168.1_Frame_Shift_Ins_p.Q1691fs	p.Q1690fs	NM_014877.3	NP_055692.2	WXS	Illumina HiSeq	Phase_I					31	5233_5234	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		NA					I6L9H4	Frame_Shift_Ins	INS	ENST00000358691.5	37	c.5067_5068insTAAATACTGATATTTTT	CCDS42374.1																																																																																				0.485	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	0	NM_014877		17:65103458
HELZ	9931	broad.mit.edu	37	17	65103750	65103751	+	In_Frame_Ins	INS	-	-	ACAGCG	rs376515239		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:65103750_65103751insACAGCG	ENST00000358691.5	-	31	4941_4942	c.4775_4776insCGCTGT	c.(4774-4776)cgg>cgCGCTGTg	p.1592_1593insAV	HELZ_ENST00000580168.1_In_Frame_Ins_p.1593_1594insAV	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1592						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1592Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAGCTAGTTCCCGTGTTTCACT	0.421																																						ENST00000358691.5		NA																	1	Substitution - Missense(1)	p.R1592Q(1)	endometrium(1)	NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4774-4776)cgg>cgCGCTGTg		helicase with zinc finger																																				SO:0001652	inframe_insertion	9931							g.chr17:65103750_65103751insACAGCG	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4775_4776insCGCTGT	17.37:g.65103750_65103751insACAGCG	ENSP00000351524:p.Arg1592_Glu1593insAlaVal	True	False		Somatic	0				HELZ_ENST00000580168.1_In_Frame_Ins_p.1593_1594insAV	p.1592_1593insAV	NM_014877.3	NP_055692.2	WXS	Illumina HiSeq	Phase_I					31	4941_4942	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		NA					I6L9H4	In_Frame_Ins	INS	ENST00000358691.5	37	c.4775_4776insCGCTGT	CCDS42374.1																																																																																				0.421	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	0	NM_014877		17:65103750
KPNA2	3838	broad.mit.edu	37	17	66033612	66033623	+	Splice_Site	DEL	GTAAAAAATGTA	GTAAAAAATGTA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GTAAAAAATGTA	GTAAAAAATGTA	-	-	GTAAAAAATGTA	GTAAAAAATGTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:66033612_66033623delGTAAAAAATGTA	ENST00000537025.2	+	3	833		c.e3+1		KPNA2_ENST00000330459.3_Splice_Site			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)						cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAACAACCAGGTAAAAAATGTATTTTAGTTTA	0.368																																						ENST00000537025.2		NA																	0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22						c.e3+1		karyopherin alpha 2 (RAG cohort 1, importin alpha 1)																																				SO:0001630	splice_region_variant	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66033612_66033623delGTAAAAAATGTA	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.213+1GTAAAAAATGTA>-	17.37:g.66033612_66033623delGTAAAAAATGTA		True	False		Somatic	1				KPNA2_ENST00000330459.3_Splice_Site				WXS	Illumina HiSeq	Phase_I	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	833	+	all_cancers(12;1.18e-09)		NA					B9EJD6|Q53YE3|Q9BRU5	Splice_Site	DEL	ENST00000537025.2	37		CCDS32713.1																																																																																				0.368	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	0	NM_002266	Intron	17:66033612
LRRC37A16P	651250	broad.mit.edu	37	17	66126509	66126510	+	RNA	INS	-	-	ATTATTTTAAGTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:66126509_66126510insATTATTTTAAGTAT	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		AAAGCAGTTACTTGAGTAGGCA	0.47																																						ENST00000590019.1		NA																	0					NA																																														0							g.chr17:66126509_66126510insATTATTTTAAGTAT			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66126509_66126510insATTATTTTAAGTAT		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	298	-			NA						RNA	INS	ENST00000590019.1	37																																																																																						0.470	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1	0			17:66126509
CHMP1B	57132	broad.mit.edu	37	18	11851926	11851927	+	Frame_Shift_Ins	INS	-	-	TCATTCTCAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:11851926_11851927insTCATTCTCAA	ENST00000526991.2	+	1	532_533	c.416_417insTCATTCTCAA	c.(415-420)acgacgfs	p.T140fs	GNAL_ENST00000535121.1_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000334049.6_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	140	Interaction with IST1.				cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						ATGAGCAGCACGACGACGCTCA	0.545																																						ENST00000526991.2		NA																	0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(415-420)acgacgfs		charged multivesicular body protein 1B																																				SO:0001589	frameshift_variant	57132				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr18:11851926_11851927insTCATTCTCAA	AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	Exception_encountered	18.37:g.11851926_11851927insTCATTCTCAA	ENSP00000432279:p.Thr140fs	True	False		Somatic	0				GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000334049.6_Intron	p.T140fs	NM_020412.4	NP_065145.2	WXS	Illumina HiSeq	Phase_I	Q7LBR1	CHM1B_HUMAN			1	532_533	+			140			Interaction with IST1.		Q96E89|Q9HD41	Frame_Shift_Ins	INS	ENST00000526991.2	37	c.416_417insTCATTCTCAA	CCDS54180.1																																																																																				0.545	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	0	NM_020412		18:11851926
ZNF271	10778	broad.mit.edu	37	18	32887244	32887245	+	RNA	INS	-	-	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:32887244_32887245insG	ENST00000399070.3	+	0	1638_1639					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						ACTCTGGTGAAAAGCCTTATCA	0.381																																						ENST00000399070.3		NA																	0				large_intestine(3)|lung(9)	12																																														0							g.chr18:32887244_32887245insG	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887244_32887245insG		True	False		Somatic	0						NR_024565.1|NR_024566.1		WXS	Illumina HiSeq	Phase_I					0	1638_1639	+			NA					B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	INS	ENST00000399070.3	37																																																																																						0.381	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	0	NR_024565		18:32887244
ZNF271	10778	broad.mit.edu	37	18	32887246	32887247	+	RNA	INS	-	-	TAAGGTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:32887246_32887247insTAAGGTTG	ENST00000399070.3	+	0	1640_1641					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						TCTGGTGAAAAGCCTTATCATT	0.381																																						ENST00000399070.3		NA																	0				large_intestine(3)|lung(9)	12																																														0							g.chr18:32887246_32887247insTAAGGTTG	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887246_32887247insTAAGGTTG		True	False		Somatic	0						NR_024565.1|NR_024566.1		WXS	Illumina HiSeq	Phase_I					0	1640_1641	+			NA					B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	INS	ENST00000399070.3	37																																																																																						0.381	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	0	NR_024565		18:32887246
DCC	1630	broad.mit.edu	37	18	50589756	50589757	+	Frame_Shift_Ins	INS	-	-	GATAGAAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:50589756_50589757insGATAGAAAAT	ENST00000442544.2	+	6	1683_1684	c.1067_1068insGATAGAAAAT	c.(1066-1071)ggaaagfs	p.GK356fs	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Frame_Shift_Ins_p.GK11fs|DCC_ENST00000412726.1_Frame_Shift_Ins_p.GK204fs	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	356	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTCTCTGGAAAGCCTGTGC	0.361																																						ENST00000581580.1		NA																	0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(31-36)ggaaagfs		deleted in colorectal carcinoma																																				SO:0001589	frameshift_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50589756_50589757insGATAGAAAAT	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	Exception_encountered	18.37:g.50589756_50589757insGATAGAAAAT	ENSP00000389140:p.Gly356fs	True	False		Somatic	0				DCC_ENST00000412726.1_Frame_Shift_Ins_p.GK204fs|DCC_ENST00000442544.2_Frame_Shift_Ins_p.GK356fs|DCC_ENST00000580146.1_3'UTR	p.GK11fs			WXS	Illumina HiSeq	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	297_298	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	356						Frame_Shift_Ins	INS	ENST00000442544.2	37	c.32_33insGATAGAAAAT	CCDS11952.1																																																																																				0.361	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	0	NM_005215		18:50589756
WDR7	23335	broad.mit.edu	37	18	54547375	54547376	+	Frame_Shift_Ins	INS	-	-	TAGAACAAATCAATATACAAAAAGACAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:54547375_54547376insTAGAACAAATCAATATACAAAAAGACAC	ENST00000254442.3	+	21	3716_3717	c.3505_3506insTAGAACAAATCAATATACAAAAAGACAC	c.(3505-3507)tacfs	p.Y1169fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.Y1136fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1169					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGATCCAACTACTCGCTGGCC	0.396																																						ENST00000254442.3		NA																	0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3505-3507)tacfs		WD repeat domain 7																																				SO:0001589	frameshift_variant	23335							g.chr18:54547375_54547376insTAGAACAAATCAATATACAAAAAGACAC	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	Exception_encountered	18.37:g.54547375_54547376insTAGAACAAATCAATATACAAAAAGACAC	ENSP00000254442:p.Tyr1169fs	False	False		Somatic	0				WDR7_ENST00000357574.3_Frame_Shift_Ins_p.Y1136fs|WDR7_ENST00000589935.1_Intron	p.Y1169fs	NM_015285.2	NP_056100.2	WXS	Illumina HiSeq	Phase_I	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3716_3717	+			1169					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Frame_Shift_Ins	INS	ENST00000254442.3	37	c.3505_3506insTAGAACAAATCAATATACAAAAAGACAC	CCDS11962.1																																																																																				0.396	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1	0			18:54547375
ATP2B4	493	broad.mit.edu	37	1	203690411	203690412	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203690411_203690412insAG	ENST00000357681.5	+	17	3808_3809	c.2685_2686insAG	c.(2686-2688)acgfs	p.T896fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T884fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T896fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T896fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T896fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	896					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGCCCCCTACGGAATCTCT	0.515																																						ENST00000357681.5		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2686-2688)acgfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203690411_203690412insAG	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	Exception_encountered	1.37:g.203690411_203690412insAG	ENSP00000350310:p.Thr896fs	False	False		Somatic	0				ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T884fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T896fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T896fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T896fs	p.T896fs	NM_001684.4	NP_001675.3	WXS	Illumina HiSeq	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	3808_3809	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		896					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.2685_2686insAG	CCDS1440.1																																																																																				0.515	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	0	NM_001001396		1:203690411
ATP2B4	493	broad.mit.edu	37	1	203690413	203690414	+	Frame_Shift_Ins	INS	-	-	TT	rs200415493|rs528179125		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203690413_203690414insTT	ENST00000357681.5	+	17	3810_3811	c.2687_2688insTT	c.(2686-2691)acggaafs	p.E897fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.E885fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.E897fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.E897fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.E897fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	897					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGCCCCCTACGGAATCTCTGT	0.515																																						ENST00000357681.5		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2686-2691)acggaafs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203690413_203690414insTT	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	Exception_encountered	1.37:g.203690413_203690414insTT	ENSP00000350310:p.Glu897fs	False	False		Somatic	0				ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.E885fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.E897fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.E897fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.E897fs	p.E897fs	NM_001684.4	NP_001675.3	WXS	Illumina HiSeq	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	3810_3811	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		897					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.2687_2688insTT	CCDS1440.1																																																																																				0.515	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	0	NM_001001396		1:203690413
SERPINB7	8710	broad.mit.edu	37	18	61465967	61465968	+	In_Frame_Ins	INS	-	-	GAAAAAAAAATTGAGGGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:61465967_61465968insGAAAAAAAAATTGAGGGA	ENST00000398019.2	+	6	909_910	c.584_585insGAAAAAAAAATTGAGGGA	c.(583-588)ttcaaa>ttGAAAAAAAAATTGAGGGAcaaa	p.195_195F>LKKKLRD	SERPINB7_ENST00000540675.1_In_Frame_Ins_p.178_178F>LKKKLRD|SERPINB7_ENST00000336429.2_In_Frame_Ins_p.195_195F>LKKKLRD|SERPINB7_ENST00000546027.1_In_Frame_Ins_p.195_195F>LKKKLRD	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	195					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AATTGCCATTTCAAATCTCCCA	0.411																																						ENST00000398019.2		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(583-588)ttcaaa>ttGAAAAAAAAATTGAGGGAcaaa		serpin peptidase inhibitor, clade B (ovalbumin), member 7																																				SO:0001652	inframe_insertion	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61465967_61465968insGAAAAAAAAATTGAGGGA	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	Exception_encountered	18.37:g.61465967_61465968insGAAAAAAAAATTGAGGGA	ENSP00000381101:p.Phe195delinsLeuLysLysLysLeuArgAsp	True	False		Somatic	0				SERPINB7_ENST00000336429.2_In_Frame_Ins_p.195_195F>LKKKLRD|SERPINB7_ENST00000546027.1_In_Frame_Ins_p.195_195F>LKKKLRD|SERPINB7_ENST00000540675.1_In_Frame_Ins_p.178_178F>LKKKLRD	p.195_195F>LKKKLRD	NM_003784.3	NP_003775.1	WXS	Illumina HiSeq	Phase_I	O75635	SPB7_HUMAN			6	909_910	+		Esophageal squamous(42;0.129)	195					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	In_Frame_Ins	INS	ENST00000398019.2	37	c.584_585insGAAAAAAAAATTGAGGGA	CCDS11988.1																																																																																				0.411	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	0	NM_003784		18:61465967
RTTN	25914	broad.mit.edu	37	18	67684837	67684838	+	Frame_Shift_Ins	INS	-	-	TTTTATAAATAATTTTC	rs554677788		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:67684837_67684838insTTTTATAAATAATTTTC	ENST00000255674.6	-	46	6512_6513	c.6226_6227insGAAAATTATTTATAAAA	c.(6226-6228)attfs	p.I2076fs	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2076					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)				CAACCAAAGAATAGTCAGATTA	0.366																																						ENST00000255674.6		NA																	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.(6226-6228)attfs		rotatin																																				SO:0001589	frameshift_variant	25914						binding	g.chr18:67684837_67684838insTTTTATAAATAATTTTC	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.6226_6227insGAAAATTATTTATAAAA	18.37:g.67684837_67684838insTTTTATAAATAATTTTC	ENSP00000255674:p.Ile2076fs	False	False		Somatic	0				RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	p.I2076fs	NM_173630.3	NP_775901.3	WXS	Illumina HiSeq	Phase_I	Q86VV8	RTTN_HUMAN			46	6512_6513	-		Esophageal squamous(42;0.129)	2076					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Ins	INS	ENST00000255674.6	37	c.6226_6227insGAAAATTATTTATAAAA	CCDS42443.1																																																																																				0.366	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	0	NM_173630		18:67684837
REXO1	57455	broad.mit.edu	37	19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-	rs149465929|rs75443592|rs199696044	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACTCTTCTCTTCCTTGGGG	0.606														1503	0.30012	0.2844	0.4135	5008	,	,		15520	0.3829		0.2087	False		,,,				2504	0.2495					ENST00000170168.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1924-1926)gagdel		REX1, RNA exonuclease 1 homolog (S. cerevisiae)				1300,2964		203,894,1035						3.2	0.0		dbSNP_106	100	1727,6527		175,1377,2575	no	coding	REXO1	NM_020695.3		378,2271,3610	A1A1,A1R,RR		20.9232,30.4878,24.1812				3027,9491				SO:0001651	inframe_deletion	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1825928_1825930delCTC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1924_1926delGAG	19.37:g.1825928_1825930delCTC	ENSP00000170168:p.Glu642del	True	False		Somatic	1					p.E642del	NM_020695.3	NP_065746.3	WXS	Illumina HiSeq	Phase_I	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	2018_2020	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	642					Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	c.1924_1926delGAG	CCDS32866.1																																																																																				0.606	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	0	NM_020695		19:1825928
CACTIN	58509	broad.mit.edu	37	19	3612289	3612290	+	In_Frame_Ins	INS	-	-	CCTGGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:3612289_3612290insCCTGGA	ENST00000429344.2	-	10	1960_1961	c.1908_1909insTCCAGG	c.(1906-1911)gacaag>gacTCCAGGaag	p.636_637DK>DSRK	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_In_Frame_Ins_p.568_569DK>DSRK|CACTIN_ENST00000248420.5_In_Frame_Ins_p.636_637DK>DSRK	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	636					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GGCCGGTACTTGTCGGCCCACA	0.629																																						ENST00000429344.2		NA																	0					NA						c.(1906-1911)gacaag>gacTCCAGGaag		cactin, spliceosome C complex subunit																																				SO:0001652	inframe_insertion	58509							g.chr19:3612289_3612290insCCTGGA	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1908_1909insTCCAGG	19.37:g.3612289_3612290insCCTGGA	ENSP00000415078:p.Asp636_Lys637insSerArg	False	False		Somatic	0				CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_In_Frame_Ins_p.636_637DK>DSRK|CACTIN_ENST00000221899.3_In_Frame_Ins_p.568_569DK>DSRK	p.636_637DK>DSRK	NM_001080543.1	NP_001074012.1	WXS	Illumina HiSeq	Phase_I					10	1960_1961	-			NA					A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	In_Frame_Ins	INS	ENST00000429344.2	37	c.1908_1909insTCCAGG	CCDS45920.1																																																																																				0.629	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2	0			19:3612289
MUC16	94025	broad.mit.edu	37	19	8994466	8994467	+	Frame_Shift_Ins	INS	-	-	CCCTGATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:8994466_8994467insCCCTGATT	ENST00000397910.4	-	64	41628_41629	c.41425_41426insAATCAGGG	c.(41425-41427)tggfs	p.W13809fs	MUC16_ENST00000380951.5_Frame_Shift_Ins_p.W450fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13811	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						GGAGCCAGGCCACATGTTCTCC	0.54																																						ENST00000397910.4		NA																	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.(41425-41427)tggfs		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.chr19:8994466_8994467insCCCTGATT	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.41425_41426insAATCAGGG	19.37:g.8994466_8994467insCCCTGATT	ENSP00000381008:p.Trp13809fs	False	False		Somatic	0				MUC16_ENST00000380951.5_Frame_Shift_Ins_p.W450fs	p.W13809fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			64	41628_41629	-			13812	Missing (in Ref. 3; AAK74120).		SEA 12.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.41425_41426insAATCAGGG	CCDS54212.1																																																																																				0.540	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:8994466
MUC16	94025	broad.mit.edu	37	19	9046560	9046561	+	Frame_Shift_Ins	INS	-	-	TTCACAGATCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9046560_9046561insTTCACAGATCA	ENST00000397910.4	-	5	35273_35274	c.35070_35071insTGATCTGTGAA	c.(35068-35073)tgggtcfs	p.V11691fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11693	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						GGATGAGTGACCCAGGAAGCCA	0.525																																						ENST00000397910.4		NA																	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.(35068-35073)tgggtcfs		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.chr19:9046560_9046561insTTCACAGATCA	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.35070_35071insTGATCTGTGAA	19.37:g.9046560_9046561insTTCACAGATCA	ENSP00000381008:p.Val11691fs	True	False		Somatic	0					p.V11691fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			5	35273_35274	-			11693			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.35070_35071insTGATCTGTGAA	CCDS54212.1																																																																																				0.525	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9046560
MUC16	94025	broad.mit.edu	37	19	9091031	9091032	+	Frame_Shift_Ins	INS	-	-	CTTTTTCCATGACACTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9091031_9091032insCTTTTTCCATGACACTA	ENST00000397910.4	-	1	986_987	c.783_784insTAGTGTCATGGAAAAAG	c.(781-786)actggafs	p.G262fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	262	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						AAGGGATATCCAGTGGTTGATA	0.45																																						ENST00000397910.4		NA																	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.(781-786)actggafs		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.chr19:9091031_9091032insCTTTTTCCATGACACTA	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.783_784insTAGTGTCATGGAAAAAG	19.37:g.9091031_9091032insCTTTTTCCATGACACTA	ENSP00000381008:p.Gly262fs	False	False		Somatic	0					p.G262fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	986_987	-			262			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.783_784insTAGTGTCATGGAAAAAG	CCDS54212.1																																																																																				0.450	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9091031
MUC16	94025	broad.mit.edu	37	19	9091033	9091034	+	In_Frame_Ins	INS	-	-	CAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9091033_9091034insCAA	ENST00000397910.4	-	1	984_985	c.781_782insTTG	c.(781-783)act>aTTGct	p.261_261T>IA		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	261	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						GGGATATCCAGTGGTTGATAGA	0.46																																						ENST00000397910.4		NA																	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.(781-783)act>aTTGct		mucin 16, cell surface associated																																				SO:0001652	inframe_insertion	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091033_9091034insCAA	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.781_782insTTG	19.37:g.9091033_9091034insCAA	ENSP00000381008:p.Thr261delinsIleAla	False	False		Somatic	0					p.261_261T>IA	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	984_985	-			261			Thr-rich.		Q6ZQW5|Q96RK2	In_Frame_Ins	INS	ENST00000397910.4	37	c.781_782insTTG	CCDS54212.1																																																																																				0.460	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9091033
ZNF763	284390	broad.mit.edu	37	19	12089428	12089429	+	In_Frame_Ins	INS	-	-	GGAAATAAAGGTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:12089428_12089429insGGAAATAAAGGTTTT	ENST00000358987.3	+	4	816_817	c.689_690insGGAAATAAAGGTTTT	c.(688-693)tgtaaa>tgGGAAATAAAGGTTTTtaaa	p.230_230C>WEIKVF	ZNF763_ENST00000545530.1_In_Frame_Ins_p.108_108C>WEIKVF|ZNF763_ENST00000343949.5_In_Frame_Ins_p.233_233C>WEIKVF|ZNF763_ENST00000538752.1_In_Frame_Ins_p.250_250C>WEIKVF|ZNF763_ENST00000590798.1_In_Frame_Ins_p.250_250C>WEIKVF			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CCGTATGAATGTAAACAATGTG	0.371																																						ENST00000358987.3		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(688-693)tgtaaa>tgGGAAATAAAGGTTTTtaaa		zinc finger protein 763																																				SO:0001652	inframe_insertion	284390							g.chr19:12089428_12089429insGGAAATAAAGGTTTT	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	Exception_encountered	19.37:g.12089428_12089429insGGAAATAAAGGTTTT	ENSP00000402017:p.Cys230delinsTrpGluIleLysValPhe	True	False		Somatic	0				ZNF763_ENST00000343949.5_In_Frame_Ins_p.233_233C>WEIKVF|ZNF763_ENST00000590798.1_In_Frame_Ins_p.250_250C>WEIKVF|ZNF763_ENST00000538752.1_In_Frame_Ins_p.250_250C>WEIKVF|ZNF763_ENST00000545530.1_In_Frame_Ins_p.108_108C>WEIKVF	p.230_230C>WEIKVF			WXS	Illumina HiSeq	Phase_I					4	816_817	+			NA					B3KRU3|B4DRE7	In_Frame_Ins	INS	ENST00000358987.3	37	c.689_690insGGAAATAAAGGTTTT																																																																																					0.371	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	0	NM_001012753		19:12089428
MUC16	94025	broad.mit.edu	37	19	9070917	9070918	+	Frame_Shift_Ins	INS	-	-	CAACC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9070917_9070918insCAACC	ENST00000397910.4	-	3	16731_16732	c.16528_16529insGGTTG	c.(16528-16530)tatfs	p.Y5510fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5512	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						TGTGGGCACATAAGAAAAGGCA	0.5																																						ENST00000397910.4		NA																	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.(16528-16530)tatfs		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.chr19:9070917_9070918insCAACC	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.16528_16529insGGTTG	19.37:g.9070917_9070918insCAACC	ENSP00000381008:p.Tyr5510fs	False	False		Somatic	0					p.Y5510fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			3	16731_16732	-			5512			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.16528_16529insGGTTG	CCDS54212.1																																																																																				0.500	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9070917
ZNF221	7638	broad.mit.edu	37	19	44471413	44471414	+	Frame_Shift_Ins	INS	-	-	TCTCTGATGTTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:44471413_44471414insTCTCTGATGTTTC	ENST00000251269.5	+	6	2087_2088	c.1759_1760insTCTCTGATGTTTC	c.(1759-1761)gaafs	p.E587fs	ZNF221_ENST00000592350.1_Frame_Shift_Ins_p.E587fs|ZNF221_ENST00000587682.1_Frame_Shift_Ins_p.E587fs	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	587					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CCACAGTGGAGAAAAGCCATTG	0.441																																						ENST00000251269.5		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1759-1761)gaafs		zinc finger protein 221																																				SO:0001589	frameshift_variant	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471413_44471414insTCTCTGATGTTTC	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		Exception_encountered	19.37:g.44471413_44471414insTCTCTGATGTTTC	ENSP00000251269:p.Glu587fs	True	False		Somatic	0				ZNF221_ENST00000592350.1_Frame_Shift_Ins_p.E587fs|ZNF221_ENST00000587682.1_Frame_Shift_Ins_p.E587fs	p.E587fs	NM_013359.2	NP_037491.2	WXS	Illumina HiSeq	Phase_I	Q9UK13	ZN221_HUMAN			6	2087_2088	+		Prostate(69;0.0352)	587					B2RAI6|Q2M2H2|Q9P1U8	Frame_Shift_Ins	INS	ENST00000251269.5	37	c.1759_1760insTCTCTGATGTTTC	CCDS12633.1																																																																																				0.441	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1	0			19:44471413
ASH1L	55870	broad.mit.edu	37	1	155447927	155447928	+	In_Frame_Ins	INS	-	-	GACACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:155447927_155447928insGACACT	ENST00000368346.3	-	3	5372_5373	c.4733_4734insAGTGTC	c.(4732-4734)gac>gaAGTGTCc	p.1578_1578D>EVS	ASH1L_ENST00000392403.3_In_Frame_Ins_p.1578_1578D>EVS			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1578					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)			TTTCTGAACAGTCAATCTGTAA	0.455																																						ENST00000368346.3		NA																	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.(4732-4734)gac>gaAGTGTCc		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001652	inframe_insertion	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.chr1:155447927_155447928insGACACT	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.4733_4734insAGTGTC	1.37:g.155447927_155447928insGACACT	ENSP00000357330:p.Asp1578delinsGluValSer	False	False		Somatic	0				ASH1L_ENST00000392403.3_In_Frame_Ins_p.1578_1578D>EVS	p.1578_1578D>EVS			WXS	Illumina HiSeq	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5372_5373	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1578					Q59GP1|Q5T714|Q5T715|Q9P2C7	In_Frame_Ins	INS	ENST00000368346.3	37	c.4733_4734insAGTGTC																																																																																					0.455	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	NM_018489		1:155447927
C4BPB	725	broad.mit.edu	37	1	207265131	207265132	+	Frame_Shift_Ins	INS	-	-	TGAAGAAGAAAATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:207265131_207265132insTGAAGAAGAAAATA	ENST00000243611.5	+	3	669_670	c.375_376insTGAAGAAGAAAATA	c.(376-378)accfs	p.T126fs	C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.T125fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.T116fs	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	126	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						TAGAGGACCACACCTGGGCACC	0.45																																						ENST00000243611.5		NA																	0				breast(2)|lung(1)|ovary(1)	4						c.(376-378)accfs		complement component 4 binding protein, beta																																				SO:0001589	frameshift_variant	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207265131_207265132insTGAAGAAGAAAATA	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	Exception_encountered	1.37:g.207265131_207265132insTGAAGAAGAAAATA	ENSP00000243611:p.Thr126fs	False	False		Somatic	0				C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.T116fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.T125fs	p.T126fs	NM_000716.3	NP_000707.1	WXS	Illumina HiSeq	Phase_I	P20851	C4BPB_HUMAN			3	669_670	+			126			Sushi 2.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Frame_Shift_Ins	INS	ENST00000243611.5	37	c.375_376insTGAAGAAGAAAATA	CCDS1476.1																																																																																				0.450	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	0	NM_000716		1:207265131
CAMK1G	57172	broad.mit.edu	37	1	209779732	209779733	+	Frame_Shift_Ins	INS	-	-	TTGTAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:209779732_209779733insTTGTAAA	ENST00000009105.1	+	6	748_749	c.503_504insTTGTAAA	c.(502-507)tccaagfs	p.K169fs	CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.K169fs			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TTTGGTCTGTCCAAGATGGAAC	0.475																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1		NA																	0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(502-507)tccaagfs		calcium/calmodulin-dependent protein kinase IG																																				SO:0001589	frameshift_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209779732_209779733insTTGTAAA		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	Exception_encountered	1.37:g.209779732_209779733insTTGTAAA	ENSP00000009105:p.Lys169fs	False	False		Somatic	0				CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.K169fs	p.K169fs			WXS	Illumina HiSeq	Phase_I	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	6	748_749	+			169			Protein kinase.		Q86UH5|Q9Y3J7	Frame_Shift_Ins	INS	ENST00000009105.1	37	c.503_504insTTGTAAA	CCDS1486.1																																																																																				0.475	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	0	NM_020439		1:209779732
ZNF578	147660	broad.mit.edu	37	19	53014946	53014947	+	Frame_Shift_Ins	INS	-	-	CAGTATGAAGTCTACG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:53014946_53014947insCAGTATGAAGTCTACG	ENST00000421239.2	+	6	1556_1557	c.1312_1313insCAGTATGAAGTCTACG	c.(1312-1314)catfs	p.H438fs	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	438					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.H438Y(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGCTTTTATTCATCAGTCAAGC	0.386																																						ENST00000421239.2		NA																	1	Substitution - Missense(1)	p.H438Y(1)	skin(1)		NA						c.(1312-1314)catfs		zinc finger protein 578																																				SO:0001589	frameshift_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014946_53014947insCAGTATGAAGTCTACG	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	Exception_encountered	19.37:g.53014946_53014947insCAGTATGAAGTCTACG	ENSP00000459216:p.His438fs	False	False		Somatic	0				CTD-3099C6.5_ENST00000599143.1_RNA	p.H438fs	NM_001099694.1	NP_001093164.1	WXS	Illumina HiSeq	Phase_I	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1556_1557	+			213					B4DR51|I3L1Y6	Frame_Shift_Ins	INS	ENST00000421239.2	37	c.1312_1313insCAGTATGAAGTCTACG	CCDS54310.1																																																																																				0.386	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	0	NM_152472		19:53014946
ZNF548	147694	broad.mit.edu	37	19	57910346	57910347	+	In_Frame_Ins	INS	-	-	TCCCTGTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:57910346_57910347insTCCCTGTAT	ENST00000366197.5	+	3	941_942	c.691_692insTCCCTGTAT	c.(691-693)ggg>gTCCCTGTATgg	p.231_231G>VPVW	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_In_Frame_Ins_p.243_243G>VPVW|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	231					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)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAACAAATGTGGGAAATTCTTT	0.381																																						ENST00000366197.5		NA																	0				breast(1)	1						c.(691-693)ggg>gTCCCTGTATgg		zinc finger protein 548																																				SO:0001652	inframe_insertion	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910346_57910347insTCCCTGTAT	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		Exception_encountered	19.37:g.57910346_57910347insTCCCTGTAT	ENSP00000379482:p.Gly231delinsValProValTrp	True	False		Somatic	0				AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_In_Frame_Ins_p.243_243G>VPVW|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	p.231_231G>VPVW	NM_152909.3	NP_690873.2	WXS	Illumina HiSeq	Phase_I	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	941_942	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	231					Q96M05	In_Frame_Ins	INS	ENST00000366197.5	37	c.691_692insTCCCTGTAT	CCDS46209.1																																																																																				0.381	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	0	NM_152909		19:57910346
VN1R1	57191	broad.mit.edu	37	19	57967487	57967488	+	Frame_Shift_Ins	INS	-	-	TTATGGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:57967487_57967488insTTATGGAT	ENST00000321039.3	-	1	366_367	c.367_368insATCCATAA	c.(367-369)tttfs	p.F123fs	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	123					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATAAAAGACAAACTTACATCCA	0.441																																						ENST00000321039.3		NA																	0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(367-369)tttfs		vomeronasal 1 receptor 1																																				SO:0001589	frameshift_variant	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967487_57967488insTTATGGAT	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.367_368insATCCATAA	19.37:g.57967487_57967488insTTATGGAT	ENSP00000322339:p.Phe123fs	True	False		Somatic	0				AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	p.F123fs	NM_020633.3	NP_065684.1	WXS	Illumina HiSeq	Phase_I	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	366_367	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	123					B3KSV5|Q7Z5H8|Q7Z5H9	Frame_Shift_Ins	INS	ENST00000321039.3	37	c.367_368insATCCATAA	CCDS12951.1																																																																																				0.441	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	0	NM_020633		19:57967487
NOP56	10528	broad.mit.edu	37	20	2636100	2636105	+	In_Frame_Del	DEL	GCTGAC	GCTGAC	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GCTGAC	GCTGAC	-	-	GCTGAC	GCTGAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:2636100_2636105delGCTGAC	ENST00000329276.5	+	6	1215_1220	c.699_704delGCTGAC	c.(697-705)gagctgaca>gaa	p.LT234del	SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD56_ENST00000413522.1_RNA|MIR1292_ENST00000408135.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA|SNORA51_ENST00000606420.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	234					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AGCTGGAGGAGCTGACAATGGATGGG	0.519																																						ENST00000329276.5		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(697-705)gagctgaca>gaa		NOP56 ribonucleoprotein																																				SO:0001651	inframe_deletion	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636100_2636105delGCTGAC	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.699_704delGCTGAC	20.37:g.2636100_2636105delGCTGAC	ENSP00000370589:p.Leu234_Thr235del	False	False		Somatic	1					p.LT234del	NM_006392.3	NP_006383.2	WXS	Illumina HiSeq	Phase_I	O00567	NOP56_HUMAN			6	1215_1220	+			234					Q2M3T6|Q9NQ05	In_Frame_Del	DEL	ENST00000329276.5	37	c.699_704delGCTGAC	CCDS13030.1																																																																																				0.519	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	0	NM_006392		20:2636100
ATRN	8455	broad.mit.edu	37	20	3543080	3543081	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:3543080_3543081insTA	ENST00000262919.5	+	9	1673_1674	c.1605_1606insTA	c.(1606-1608)cgafs	p.R536fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.R536fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	536					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGATCTCTACCGATATGATGT	0.446																																						ENST00000262919.5		NA																	0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1606-1608)cgafs		attractin																																				SO:0001589	frameshift_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3543080_3543081insTA	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	Exception_encountered	20.37:g.3543080_3543081insTA	ENSP00000262919:p.Arg536fs	False	False		Somatic	0				ATRN_ENST00000446916.2_Frame_Shift_Ins_p.R536fs	p.R536fs	NM_139321.2	NP_647537.1	WXS	Illumina HiSeq	Phase_I	O75882	ATRN_HUMAN			9	1673_1674	+			536					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Frame_Shift_Ins	INS	ENST00000262919.5	37	c.1605_1606insTA	CCDS13053.1																																																																																				0.446	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	0	NM_139321		20:3543080
ATRN	8455	broad.mit.edu	37	20	3543081	3543082	+	Frame_Shift_Ins	INS	-	-	TGAAAATGTCCAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:3543081_3543082insTGAAAATGTCCAAA	ENST00000262919.5	+	9	1674_1675	c.1606_1607insTGAAAATGTCCAAA	c.(1606-1608)cgafs	p.R536fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.R536fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	536					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATCTCTACCGATATGATGTG	0.441																																						ENST00000262919.5		NA																	0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1606-1608)cgafs		attractin																																				SO:0001589	frameshift_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3543081_3543082insTGAAAATGTCCAAA	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	Exception_encountered	20.37:g.3543081_3543082insTGAAAATGTCCAAA	ENSP00000262919:p.Arg536fs	False	False		Somatic	0				ATRN_ENST00000446916.2_Frame_Shift_Ins_p.R536fs	p.R536fs	NM_139321.2	NP_647537.1	WXS	Illumina HiSeq	Phase_I	O75882	ATRN_HUMAN			9	1674_1675	+			536					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Frame_Shift_Ins	INS	ENST00000262919.5	37	c.1606_1607insTGAAAATGTCCAAA	CCDS13053.1																																																																																				0.441	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	0	NM_139321		20:3543081
LRRN4	164312	broad.mit.edu	37	20	6031626	6031627	+	Frame_Shift_Ins	INS	-	-	GATTTTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:6031626_6031627insGATTTTTG	ENST00000378858.4	-	3	882_883	c.658_659insCAAAAATC	c.(658-660)gagfs	p.E220fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	220					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCACCCTGACTCAACTGAAACA	0.554																																						ENST00000378858.4		NA																	0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(658-660)gagfs		leucine rich repeat neuronal 4																																				SO:0001589	frameshift_variant	164312					integral to membrane		g.chr20:6031626_6031627insGATTTTTG	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.658_659insCAAAAATC	20.37:g.6031626_6031627insGATTTTTG	ENSP00000368135:p.Glu220fs	False	False		Somatic	0					p.E220fs	NM_152611.4	NP_689824.2	WXS	Illumina HiSeq	Phase_I	Q8WUT4	LRRN4_HUMAN			3	882_883	-			220					A8K258|Q5JWV6|Q9H419	Frame_Shift_Ins	INS	ENST00000378858.4	37	c.658_659insCAAAAATC	CCDS13097.1																																																																																				0.554	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	0	NM_152611		20:6031626
PAK7	57144	broad.mit.edu	37	20	9560880	9560881	+	Frame_Shift_Ins	INS	-	-	TTTGCCTTTTAAGGGAAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:9560880_9560881insTTTGCCTTTTAAGGGAAAAT	ENST00000378429.3	-	5	1447_1448	c.901_902insATTTTCCCTTAAAAGGCAAA	c.(901-903)gcafs	p.A301fs	PAK7_ENST00000378423.1_Frame_Shift_Ins_p.A301fs|PAK7_ENST00000353224.5_Frame_Shift_Ins_p.A301fs|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	301	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAATGCACTTGCTCCAAATGGC	0.54																																						ENST00000378429.3		NA																	0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(901-903)gcafs		p21 protein (Cdc42/Rac)-activated kinase 7																																				SO:0001589	frameshift_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9560880_9560881insTTTGCCTTTTAAGGGAAAAT	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.901_902insATTTTCCCTTAAAAGGCAAA	20.37:g.9560880_9560881insTTTGCCTTTTAAGGGAAAAT	ENSP00000367686:p.Ala301fs	False	False		Somatic	0				PAK7_ENST00000353224.5_Frame_Shift_Ins_p.A301fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.A301fs	p.A301fs	NM_020341.3	NP_065074.1	WXS	Illumina HiSeq	Phase_I	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1447_1448	-			301			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Frame_Shift_Ins	INS	ENST00000378429.3	37	c.901_902insATTTTCCCTTAAAAGGCAAA	CCDS13107.1																																																																																				0.540	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1	0			20:9560880
PAK7	57144	broad.mit.edu	37	20	9561464	9561465	+	Frame_Shift_Ins	INS	-	-	AAGCCTTT	rs540057460		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:9561464_9561465insAAGCCTTT	ENST00000378429.3	-	5	863_864	c.317_318insAAAGGCTT	c.(316-318)cccfs	p.-106fs	PAK7_ENST00000378423.1_Frame_Shift_Ins_p.-106fs|PAK7_ENST00000353224.5_Frame_Shift_Ins_p.-106fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7						apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GATCTGGGGTGGGTGGGCTTTC	0.545																																						ENST00000378429.3		NA																	0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(316-318)cccfs		p21 protein (Cdc42/Rac)-activated kinase 7																																				SO:0001589	frameshift_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561464_9561465insAAGCCTTT	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.317_318insAAAGGCTT	20.37:g.9561464_9561465insAAGCCTTT	ENSP00000367686:p.Pro106fs	True	False		Somatic	0				PAK7_ENST00000353224.5_Frame_Shift_Ins_p.-106fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.-106fs	p.-106fs	NM_020341.3	NP_065074.1	WXS	Illumina HiSeq	Phase_I	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	863_864	-			NA					A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Frame_Shift_Ins	INS	ENST00000378429.3	37	c.317_318insAAAGGCTT	CCDS13107.1																																																																																				0.545	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1	0			20:9561464
NAA20	51126	broad.mit.edu	37	20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:20007556_20007557insA	ENST00000334982.4	+	4	579_580	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Frame_Shift_Ins_p.S100fs	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	100	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						AGAGGAGATTTCAGAAAGGTGA	0.446																																						ENST00000310450.4		NA																	0				endometrium(3)|lung(2)|prostate(1)	6						c.(298-300)tcafs		N(alpha)-acetyltransferase 20, NatB catalytic subunit																																				SO:0001589	frameshift_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20007556_20007557insA	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	Exception_encountered	20.37:g.20007556_20007557insA	ENSP00000335636:p.Ser100fs	True	False		Somatic	0				NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs	p.S100fs	NM_181528.3	NP_852669.1	WXS	Illumina HiSeq	Phase_I	P61599	NAA20_HUMAN			4	385_386	+			100			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Frame_Shift_Ins	INS	ENST00000334982.4	37	c.298_299insA	CCDS13141.1																																																																																				0.446	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	0	NM_016100		20:20007556
NAA20	51126	broad.mit.edu	37	20	20007557	20007558	+	Frame_Shift_Ins	INS	-	-	ACATAAATAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:20007557_20007558insACATAAATAT	ENST00000334982.4	+	4	580_581	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Frame_Shift_Ins_p.E101fs	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	101	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GAGGAGATTTCAGAAAGGTGAG	0.446																																						ENST00000310450.4		NA																	0				endometrium(3)|lung(2)|prostate(1)	6						c.(298-303)tcagaafs		N(alpha)-acetyltransferase 20, NatB catalytic subunit																																				SO:0001589	frameshift_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20007557_20007558insACATAAATAT	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	Exception_encountered	20.37:g.20007557_20007558insACATAAATAT	ENSP00000335636:p.Glu101fs	False	False		Somatic	0				NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs	p.E101fs	NM_181528.3	NP_852669.1	WXS	Illumina HiSeq	Phase_I	P61599	NAA20_HUMAN			4	386_387	+			101			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Frame_Shift_Ins	INS	ENST00000334982.4	37	c.299_300insACATAAATAT	CCDS13141.1																																																																																				0.446	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	0	NM_016100		20:20007557
EDEM2	55741	broad.mit.edu	37	20	33703415	33703416	+	Frame_Shift_Ins	INS	-	-	CACTGGAT	rs373887606		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:33703415_33703416insCACTGGAT	ENST00000374492.3	-	11	1662_1663	c.1557_1558insATCCAGTG	c.(1555-1560)actgttfs	p.V520fs	SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000541621.1_Frame_Shift_Ins_p.V299fs|EDEM2_ENST00000374491.3_Frame_Shift_Ins_p.V483fs|EDEM2_ENST00000542871.1_Frame_Shift_Ins_p.V244fs	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	520					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCGAACTAACAGTGTTTTTCT	0.525																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000374492.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1555-1560)actgttfs		ER degradation enhancer, mannosidase alpha-like 2																																				SO:0001589	frameshift_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33703415_33703416insCACTGGAT	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1557_1558insATCCAGTG	20.37:g.33703415_33703416insCACTGGAT	ENSP00000363616:p.Val520fs	False	False		Somatic	0				EDEM2_ENST00000374491.2_Frame_Shift_Ins_p.V483fs|EDEM2_ENST00000542871.1_Frame_Shift_Ins_p.V244fs|EDEM2_ENST00000541621.1_Frame_Shift_Ins_p.V299fs	p.V520fs	NM_018217.2	NP_060687.2	WXS	Illumina HiSeq	Phase_I	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		11	1662_1663	-			520					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Frame_Shift_Ins	INS	ENST00000374492.3	37	c.1557_1558insATCCAGTG	CCDS13247.1																																																																																				0.525	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	0	NM_018217		20:33703415
RBL1	5933	broad.mit.edu	37	20	35663905	35663906	+	Frame_Shift_Ins	INS	-	-	TTTCTAAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:35663905_35663906insTTTCTAAC	ENST00000373664.3	-	15	1975_1976	c.1909_1910insGTTAGAAA	c.(1909-1911)caafs	p.Q637fs	RBL1_ENST00000344359.3_Frame_Shift_Ins_p.Q637fs	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	637	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGACAATGGTTGCATATCtaaa	0.361																																						ENST00000373664.3		NA																	0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1909-1911)caafs		retinoblastoma-like 1 (p107)																																				SO:0001589	frameshift_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35663905_35663906insTTTCTAAC	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1909_1910insGTTAGAAA	20.37:g.35663905_35663906insTTTCTAAC	ENSP00000362768:p.Gln637fs	False	False		Somatic	0				RBL1_ENST00000344359.3_Frame_Shift_Ins_p.Q637fs	p.Q637fs	NM_002895.2	NP_002886.2	WXS	Illumina HiSeq	Phase_I	P28749	RBL1_HUMAN			15	1975_1976	-		Myeloproliferative disorder(115;0.00878)	637			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Frame_Shift_Ins	INS	ENST00000373664.3	37	c.1909_1910insGTTAGAAA	CCDS13289.1																																																																																				0.361	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	0	NM_002895		20:35663905
PTPRT	11122	broad.mit.edu	37	20	40827957	40827962	+	In_Frame_Del	DEL	TCGGCA	TCGGCA	-	rs200990749|rs368232579		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TCGGCA	TCGGCA	-	-	TCGGCA	TCGGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:40827957_40827962delTCGGCA	ENST00000373187.1	-	16	2408_2413	c.2409_2414delTGCCGA	c.(2407-2415)tctgccgac>tcc	p.AD804del	PTPRT_ENST00000356100.2_In_Frame_Del_p.AD813del|PTPRT_ENST00000373201.1_In_Frame_Del_p.AD794del|PTPRT_ENST00000373198.4_In_Frame_Del_p.AD823del|PTPRT_ENST00000373193.3_In_Frame_Del_p.AD807del|PTPRT_ENST00000373184.1_In_Frame_Del_p.AD794del|PTPRT_ENST00000373190.1_In_Frame_Del_p.AD804del			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	804					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGGGTTTGTCGGCAGAGGCCACAG	0.553																																						ENST00000373198.3		NA																	0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2473-2481)tctgccgac>tcc		protein tyrosine phosphatase, receptor type, T																																				SO:0001651	inframe_deletion	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827957_40827962delTCGGCA	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2409_2414delTGCCGA	20.37:g.40827957_40827962delTCGGCA	ENSP00000362283:p.Ala804_Asp805del	False	False		Somatic	1				PTPRT_ENST00000373190.1_In_Frame_Del_p.AD804del|PTPRT_ENST00000373201.1_In_Frame_Del_p.AD794del|PTPRT_ENST00000373187.1_In_Frame_Del_p.AD804del|PTPRT_ENST00000356100.2_In_Frame_Del_p.AD813del|PTPRT_ENST00000373193.3_In_Frame_Del_p.AD807del|PTPRT_ENST00000373184.1_In_Frame_Del_p.AD794del	p.AD826del	NM_133170.3	NP_573400.3	WXS	Illumina HiSeq	Phase_I	O14522	PTPRT_HUMAN			17	2710_2715	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	804					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	In_Frame_Del	DEL	ENST00000373187.1	37	c.2475_2480delTGCCGA	CCDS42874.1																																																																																				0.553	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	0			20:40827957
PTPRT	11122	broad.mit.edu	37	20	40944568	40944569	+	Frame_Shift_Ins	INS	-	-	TACAGCATCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:40944568_40944569insTACAGCATCT	ENST00000373187.1	-	12	1932_1933	c.1933_1934insAGATGCTGTA	c.(1933-1935)tgcfs	p.C645fs	PTPRT_ENST00000356100.2_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373201.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373198.4_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373193.3_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373184.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373190.1_Frame_Shift_Ins_p.C645fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	645	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCGAAAAGCACTCAATAATG	0.53																																						ENST00000373198.3		NA																	0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1933-1935)tgcfs		protein tyrosine phosphatase, receptor type, T																																				SO:0001589	frameshift_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40944568_40944569insTACAGCATCT	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1933_1934insAGATGCTGTA	20.37:g.40944568_40944569insTACAGCATCT	ENSP00000362283:p.Cys645fs	False	False		Somatic	0				PTPRT_ENST00000373190.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373201.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373187.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000356100.2_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373193.3_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373184.1_Frame_Shift_Ins_p.C645fs	p.C645fs	NM_133170.3	NP_573400.3	WXS	Illumina HiSeq	Phase_I	O14522	PTPRT_HUMAN			12	2168_2169	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	645			Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Ins	INS	ENST00000373187.1	37	c.1933_1934insAGATGCTGTA	CCDS42874.1																																																																																				0.530	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	0			20:40944568
SERINC3	10955	broad.mit.edu	37	20	43135628	43135629	+	Frame_Shift_Ins	INS	-	-	GTTTTTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:43135628_43135629insGTTTTTA	ENST00000342374.4	-	6	779_780	c.622_623insTAAAAAC	c.(622-624)tctfs	p.S208fs	SERINC3_ENST00000255175.1_Frame_Shift_Ins_p.S208fs|SERINC3_ENST00000541235.1_Frame_Shift_Ins_p.S153fs	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	208					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCTTGTGAAAGACAGTAAAGCT	0.381																																						ENST00000342374.4		NA																	0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(622-624)tctfs		serine incorporator 3																																				SO:0001589	frameshift_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43135628_43135629insGTTTTTA	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.622_623insTAAAAAC	20.37:g.43135628_43135629insGTTTTTA	ENSP00000340243:p.Ser208fs	False	False		Somatic	0				SERINC3_ENST00000541235.1_Frame_Shift_Ins_p.S153fs|SERINC3_ENST00000255175.1_Frame_Shift_Ins_p.S208fs	p.S208fs	NM_006811.2	NP_006802.1	WXS	Illumina HiSeq	Phase_I	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		6	779_780	-		Myeloproliferative disorder(115;0.0122)	208					B4DUE9|O43717|Q9BR33	Frame_Shift_Ins	INS	ENST00000342374.4	37	c.622_623insTAAAAAC	CCDS13333.1																																																																																				0.381	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	0	NM_006811		20:43135628
SYCP2	10388	broad.mit.edu	37	20	58449064	58449065	+	Frame_Shift_Ins	INS	-	-	TCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:58449064_58449065insTCTC	ENST00000357552.3	-	35	3626_3627	c.3401_3402insGAGA	c.(3400-3402)acafs	p.-1134fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.-1134fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATAGATTTTGTTATGCAGTC	0.302																																						ENST00000357552.3		NA																	0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3400-3402)acafs		synaptonemal complex protein 2																																				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58449064_58449065insTCTC	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3401_3402insGAGA	20.37:g.58449064_58449065insTCTC	ENSP00000350162:p.Thr1134fs	True	False		Somatic	0				SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.-1134fs	p.-1134fs			WXS	Illumina HiSeq	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3626_3627	-	all_lung(29;0.00344)		NA					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3401_3402insGAGA	CCDS13482.1																																																																																				0.302	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	NM_014258		20:58449064
SLCO4A1	28231	broad.mit.edu	37	20	61297929	61297931	+	Splice_Site	DEL	TGA	TGA	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:61297929_61297931delTGA	ENST00000370507.1	+	6	1568		c.e6+2		SLCO4A1_ENST00000217159.1_Splice_Site|SLCO4A1_ENST00000470412.1_Splice_Site|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGGCGGGAGGTGAGGGCCAGATG	0.655																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000370507.1		NA																	0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.e6+2		solute carrier organic anion transporter family, member 4A1																																				SO:0001630	splice_region_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61297929_61297931delTGA	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1472+2TGA>-	20.37:g.61297929_61297931delTGA		False	False		Somatic	1				SLCO4A1_ENST00000217159.1_Splice_Site|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000470412.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		6	1568	+	Breast(26;3.65e-08)		NA					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Splice_Site	DEL	ENST00000370507.1	37		CCDS13501.1																																																																																				0.655	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	0	NM_016354	Intron	20:61297929
MIS18A	54069	broad.mit.edu	37	21	33641405	33641406	+	Frame_Shift_Ins	INS	-	-	TAAATGAAGCAACATAGTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:33641405_33641406insTAAATGAAGCAACATAGTG	ENST00000290130.3	-	5	698_699	c.644_645insCACTATGTTGCTTCATTTA	c.(643-645)ttafs	p.-214fs	MIS18A_ENST00000486363.1_5'Flank	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A						CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GCTTCATTTGTAATGCTTTCAA	0.351																																						ENST00000290130.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(643-645)ttafs		MIS18 kinetochore protein A																																				SO:0001589	frameshift_variant	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33641405_33641406insTAAATGAAGCAACATAGTG	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.644_645insCACTATGTTGCTTCATTTA	21.37:g.33641405_33641406insTAAATGAAGCAACATAGTG	ENSP00000290130:p.Ala214fs	False	False		Somatic	0					p.-214fs	NM_018944.2	NP_061817.1	WXS	Illumina HiSeq	Phase_I	Q9NYP9	MS18A_HUMAN			5	698_699	-			NA					B2R562|Q542Z0	Frame_Shift_Ins	INS	ENST00000290130.3	37	c.644_645insCACTATGTTGCTTCATTTA	CCDS13611.1																																																																																				0.351	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	0	NM_018944		21:33641405
KCNE1	3753	broad.mit.edu	37	21	35821678	35821679	+	In_Frame_Ins	INS	-	-	ACCTGATTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:35821678_35821679insACCTGATTT	ENST00000337385.3	-	3	629_630	c.254_255insAAATCAGGT	c.(253-255)gat>gaAAATCAGGTt	p.85_85D>ENQV	KCNE1_ENST00000399289.3_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000416357.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000432085.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399284.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399286.2_In_Frame_Ins_p.85_85D>ENQV	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	85			D -> N (predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild- type channel; dbSNP:rs1805128). {ECO:0000269|PubMed:15051636, ECO:0000269|PubMed:16823764, ECO:0000269|PubMed:8899564}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTTGCCAGGCATCGGACTCGAT	0.55																																						ENST00000337385.3		NA																	0				large_intestine(4)|lung(1)|ovary(2)	7						c.(253-255)gat>gaAAATCAGGTt		potassium voltage-gated channel, Isk-related family, member 1	Indapamide(DB00808)																																			SO:0001652	inframe_insertion	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821678_35821679insACCTGATTT	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.254_255insAAATCAGGT	21.37:g.35821678_35821679insACCTGATTT	ENSP00000337255:p.Asp85delinsGluAsnGlnVal	False	False		Somatic	0				KCNE1_ENST00000399286.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399289.3_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000432085.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399284.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000416357.2_In_Frame_Ins_p.85_85D>ENQV	p.85_85D>ENQV	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	WXS	Illumina HiSeq	Phase_I	P15382	KCNE1_HUMAN			3	629_630	-			85		D -> N (predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential between the mutant and the wildt-ype channels; dbSNP:rs1805128).			A5H1P2|Q8N709|Q91Z94	In_Frame_Ins	INS	ENST00000337385.3	37	c.254_255insAAATCAGGT	CCDS13636.1																																																																																				0.550	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1	0			21:35821678
PEX26	55670	broad.mit.edu	37	22	18566374	18566375	+	Frame_Shift_Ins	INS	-	-	CTCAATGATT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:18566374_18566375insCTCAATGATT	ENST00000329627.7	+	4	749_750	c.543_544insCTCAATGATT	c.(544-546)gtgfs	p.V182fs	PEX26_ENST00000428061.2_Frame_Shift_Ins_p.V182fs|PEX26_ENST00000399744.3_Frame_Shift_Ins_p.V182fs	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	182					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGAGCTAGTGGTGGGCTCTGC	0.569																																						ENST00000428061.2		NA																	0				breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(544-546)gtgfs		peroxisomal biogenesis factor 26																																				SO:0001589	frameshift_variant	55670				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	g.chr22:18566374_18566375insCTCAATGATT	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	Exception_encountered	22.37:g.18566374_18566375insCTCAATGATT	ENSP00000331106:p.Val182fs	False	False		Somatic	0				PEX26_ENST00000329627.6_Frame_Shift_Ins_p.V182fs|PEX26_ENST00000399744.3_Frame_Shift_Ins_p.V182fs	p.V182fs	NM_001199319.1	NP_001186248.1	WXS	Illumina HiSeq	Phase_I	Q7Z412	PEX26_HUMAN			3	543_544	+			182					F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Frame_Shift_Ins	INS	ENST00000329627.7	37	c.543_544insCTCAATGATT	CCDS13750.1																																																																																				0.569	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	0	NM_017929		22:18566374
SUSD4	55061	broad.mit.edu	37	1	223408416	223408417	+	Intron	INS	-	-	GTTTGAATTAAACATTCCATTTTTATCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:223408416_223408417insGTTTGAATTAAACATTCCATTTTTATCCT	ENST00000343846.3	-	5	1358				SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000344029.6_Frame_Shift_Ins_p.V251fs			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAATAAAGGACAGGGAAAAGAT	0.406																																						ENST00000344029.6		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(748-753)cctgtcfs		sushi domain containing 4																																				SO:0001627	intron_variant	55061					integral to membrane		g.chr1:223408416_223408417insGTTTGAATTAAACATTCCATTTTTATCCT	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5686->AGGATAAAAATGGAATGTTTAATTCAAAC	1.37:g.223408416_223408417insGTTTGAATTAAACATTCCATTTTTATCCT		True	False		Somatic	0				SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000478605.1_Intron	p.V251fs	NM_001037175.2	NP_001032252.1	WXS	Illumina HiSeq	Phase_I	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	6	895_896	-			0			Sushi 4.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Frame_Shift_Ins	INS	ENST00000343846.3	37	c.750_751insAGGATAAAAATGGAATGTTTAATTCAAAC	CCDS41471.1																																																																																				0.406	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	0	NM_017982		1:223408416
H3F3A	3020	broad.mit.edu	37	1	226252133	226252134	+	Frame_Shift_Ins	INS	-	-	CAAATCTGGAAATTATGATCAGTATAAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:226252133_226252134insCAAATCTGGAAATTATGATCAGTATAAAA	ENST00000366813.1	+	1	456_457	c.81_82insCAAATCTGGAAATTATGATCAGTATAAAA	c.(82-84)aagfs	p.-27fs	H3F3A_ENST00000366816.1_Frame_Shift_Ins_p.-27fs|H3F3A_ENST00000366814.3_Frame_Shift_Ins_p.-27fs|H3F3A_ENST00000366815.3_Frame_Shift_Ins_p.-27fs|RP11-396C23.4_ENST00000609423.1_RNA			P84243	H33_HUMAN	H3 histone, family 3A						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		AAGCCGCTCGCAAGAGTGCGCC	0.485			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366814.3		NA		Dom	yes		1	1q42.12	3020	Mis	"""H3 histone, family 3A"""			O			glioma		0				central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(82-84)aagfs		H3 histone, family 3A																																				SO:0001589	frameshift_variant	3020							g.chr1:226252133_226252134insCAAATCTGGAAATTATGATCAGTATAAAA	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	Exception_encountered	1.37:g.226252133_226252134insCAAATCTGGAAATTATGATCAGTATAAAA	ENSP00000355778:p.Arg27fs	False	False		Somatic	0	OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_ENST00000366813.1_Frame_Shift_Ins_p.-27fs|H3F3A_ENST00000366816.1_Frame_Shift_Ins_p.-27fs|H3F3A_ENST00000366815.3_Frame_Shift_Ins_p.-27fs	p.-27fs			WXS	Illumina HiSeq	Phase_I				GBM - Glioblastoma multiforme(131;0.203)	2	202_203	+	Breast(184;0.179)		NA					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Frame_Shift_Ins	INS	ENST00000366813.1	37	c.81_82insCAAATCTGGAAATTATGATCAGTATAAAA	CCDS1550.1																																																																																				0.485	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	0	NM_002107		1:226252133
ZNF678	339500	broad.mit.edu	37	1	227842194	227842195	+	In_Frame_Ins	INS	-	-	ATAAAAATAAAAAGTTATTCTTCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:227842194_227842195insATAAAAATAAAAAGTTATTCTTCT	ENST00000343776.5	+	4	588_589	c.243_244insATAAAAATAAAAAGTTATTCTTCT	c.(244-246)tat>ATAAAAATAAAAAGTTATTCTTCTtat	p.81_82insIKIKSYSS	ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKSYSS|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGCAGAAAGAATATTGCAATAG	0.386																																						ENST00000343776.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(244-246)tat>ATAAAAATAAAAAGTTATTCTTCTtat		zinc finger protein 678																																				SO:0001652	inframe_insertion	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842194_227842195insATAAAAATAAAAAGTTATTCTTCT	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	Exception_encountered	1.37:g.227842194_227842195insATAAAAATAAAAAGTTATTCTTCT	ENSP00000344828:p.Glu81_Tyr82insIleLysIleLysSerTyrSerSer	True	False		Somatic	0				ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKSYSS	p.81_82insIKIKSYSS			WXS	Illumina HiSeq	Phase_I	F5GXA7	F5GXA7_HUMAN			4	588_589	+		Prostate(94;0.0885)	136					Q8IVQ9	In_Frame_Ins	INS	ENST00000343776.5	37	c.243_244insATAAAAATAAAAAGTTATTCTTCT																																																																																					0.386	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	0	NM_178549		1:227842194
EIF4ENIF1	56478	broad.mit.edu	37	22	31845480	31845481	+	Frame_Shift_Ins	INS	-	-	TAAATATACTTATTTGTCAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:31845480_31845481insTAAATATACTTATTTGTCAA	ENST00000397525.1	-	12	1844_1845	c.1621_1622insTTGACAAATAAGTATATTTA	c.(1621-1623)tccfs	p.S541fs	EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.S517fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Ins_p.S196fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Ins_p.S366fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.S541fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	541						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAAGATTGGAAGAAGCAGGT	0.475																																						ENST00000344710.5		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1096-1098)tccfs		eukaryotic translation initiation factor 4E nuclear import factor 1																																				SO:0001589	frameshift_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31845480_31845481insTAAATATACTTATTTGTCAA	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1621_1622insTTGACAAATAAGTATATTTA	22.37:g.31845480_31845481insTAAATATACTTATTTGTCAA	ENSP00000380659:p.Ser541fs	False	False		Somatic	0				EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.S517fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Ins_p.S196fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.S541fs|EIF4ENIF1_ENST00000397525.1_Frame_Shift_Ins_p.S541fs	p.S366fs	NM_001164502.1	NP_001157974.1	WXS	Illumina HiSeq	Phase_I	Q9NRA8	4ET_HUMAN			10	1253_1254	-			541					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Frame_Shift_Ins	INS	ENST00000397525.1	37	c.1096_1097insTTGACAAATAAGTATATTTA	CCDS13898.1																																																																																				0.475	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	0	NM_019843		22:31845480
TCF20	6942	broad.mit.edu	37	22	42608966	42608967	+	Frame_Shift_Ins	INS	-	-	CTGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:42608966_42608967insCTGAA	ENST00000359486.3	-	1	2481_2482	c.2345_2346insTTCAG	c.(2344-2346)ctafs	p.-782fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.-782fs|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGGTTCCTTCTAGGCTACCAGC	0.495																																						ENST00000359486.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2344-2346)ctafs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608966_42608967insCTGAA	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2345_2346insTTCAG	22.37:g.42608966_42608967insCTGAA	ENSP00000352463:p.Leu782fs	False	False		Somatic	0				TCF20_ENST00000335626.4_Frame_Shift_Ins_p.-782fs	p.-782fs	NM_005650.1	NP_005641.1	WXS	Illumina HiSeq	Phase_I	Q9UGU0	TCF20_HUMAN			1	2481_2482	-			NA					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.2345_2346insTTCAG	CCDS14033.1																																																																																				0.495	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	0	NM_181492		22:42608966
TCF20	6942	broad.mit.edu	37	22	42608968	42608969	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:42608968_42608969insAA	ENST00000359486.3	-	1	2479_2480	c.2343_2344insTT	c.(2341-2346)agcctafs	p.L782fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.L782fs|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	782					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTCCTTCTAGGCTACCAGCCA	0.485																																						ENST00000359486.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2341-2346)agcctafs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608968_42608969insAA	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2343_2344insTT	22.37:g.42608968_42608969insAA	ENSP00000352463:p.Leu782fs	False	False		Somatic	0				TCF20_ENST00000335626.4_Frame_Shift_Ins_p.L782fs	p.L782fs	NM_005650.1	NP_005641.1	WXS	Illumina HiSeq	Phase_I	Q9UGU0	TCF20_HUMAN			1	2479_2480	-			782					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.2343_2344insTT	CCDS14033.1																																																																																				0.485	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	0	NM_181492		22:42608968
SLC38A5	92745	broad.mit.edu	37	X	48320638	48320639	+	Frame_Shift_Ins	INS	-	-	GCTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:48320638_48320639insGCTG	ENST00000376876.3	-	9	1456_1457	c.613_614insCAGC	c.(613-615)atgfs	p.M205fs	SLC38A5_ENST00000317669.5_Frame_Shift_Ins_p.M205fs|SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Frame_Shift_Ins_p.M154fs			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	205					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GAAAAACAGCATGCAGGTCAGA	0.54																																						ENST00000376876.3		NA																	0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(613-615)atgfs		solute carrier family 38, member 5																																				SO:0001589	frameshift_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48320638_48320639insGCTG	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.613_614insCAGC	X.37:g.48320638_48320639insGCTG	ENSP00000366073:p.Met205fs	False	False		Somatic	0				SLC38A5_ENST00000317669.5_Frame_Shift_Ins_p.M205fs|SLC38A5_ENST00000376875.1_Frame_Shift_Ins_p.M154fs	p.M205fs			WXS	Illumina HiSeq	Phase_I	Q8WUX1	S38A5_HUMAN			9	1456_1457	-			205					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Frame_Shift_Ins	INS	ENST00000376876.3	37	c.613_614insCAGC	CCDS14293.1																																																																																				0.540	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	0	NM_033518		X:48320638
KLHL4	56062	broad.mit.edu	37	X	86880784	86880785	+	Frame_Shift_Ins	INS	-	-	TATATGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:86880784_86880785insTATATGA	ENST00000373119.4	+	6	1457_1458	c.1312_1313insTATATGA	c.(1312-1314)gatfs	p.D438fs	KLHL4_ENST00000373114.4_Frame_Shift_Ins_p.D438fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	438						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGAGGCATGGATGCTATGAAA	0.381																																						ENST00000373119.4		NA																	0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1312-1314)gatfs		kelch-like family member 4																																				SO:0001589	frameshift_variant	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86880784_86880785insTATATGA	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	Exception_encountered	X.37:g.86880784_86880785insTATATGA	ENSP00000362211:p.Asp438fs	False	False		Somatic	0				KLHL4_ENST00000373114.4_Frame_Shift_Ins_p.D438fs	p.D438fs	NM_019117.4	NP_061990.2	WXS	Illumina HiSeq	Phase_I	Q9C0H6	KLHL4_HUMAN			6	1457_1458	+			438					B2RTW2|Q9Y3J5	Frame_Shift_Ins	INS	ENST00000373119.4	37	c.1312_1313insTATATGA	CCDS14457.1																																																																																				0.381	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1	0			X:86880784
DRP2	1821	broad.mit.edu	37	X	100503213	100503214	+	Frame_Shift_Ins	INS	-	-	AGAAGAGAAAAAAAATATAGCCAAAAGTAGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:100503213_100503214insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	ENST00000395209.3	+	13	1915_1916	c.1388_1389insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	c.(1387-1392)ggcatcfs	p.I464fs	DRP2_ENST00000541709.1_Frame_Shift_Ins_p.I386fs|DRP2_ENST00000538510.1_Frame_Shift_Ins_p.I464fs|DRP2_ENST00000402866.1_Frame_Shift_Ins_p.I464fs	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	464					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						GAGGAAAGAGGCATCCTGGTCA	0.495																																						ENST00000395209.3		NA																	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.(1387-1392)ggcatcfs		dystrophin related protein 2																																				SO:0001589	frameshift_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100503213_100503214insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	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	Exception_encountered	X.37:g.100503213_100503214insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	ENSP00000378635:p.Ile464fs	False	False		Somatic	0				DRP2_ENST00000538510.1_Frame_Shift_Ins_p.I464fs|DRP2_ENST00000402866.1_Frame_Shift_Ins_p.I464fs|DRP2_ENST00000541709.1_Frame_Shift_Ins_p.I386fs	p.I464fs	NM_001939.2	NP_001930.2	WXS	Illumina HiSeq	Phase_I	Q13474	DRP2_HUMAN			13	1915_1916	+			464					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Frame_Shift_Ins	INS	ENST00000395209.3	37	c.1388_1389insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	CCDS14480.2																																																																																				0.495	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	0	NM_001939		X:100503213
ESX1	80712	broad.mit.edu	37	X	103498998	103499033	+	In_Frame_Del	DEL	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	rs141891783|rs56255243		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	-	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	ENST00000372588.4	-	2	391_426	c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	c.(307-345)ctgctcgagctgaagcaagagcaggaggagccgccccag>cag	p.LLELKQEQEEPP103del		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	103					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACGGTCGTCTGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCAGGGGCGGCTC	0.712																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4		NA																	0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(307-345)ctgctcgagctgaagcaagagcaggaggagccgccccag>cag		ESX homeobox 1																																				SO:0001651	inframe_deletion	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	X.37:g.103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	ENSP00000361669:p.Leu103_Pro114del	False	False		Somatic	1					p.LLELKQEQEEPP103del	NM_153448.3	NP_703149.1	WXS	Illumina HiSeq	Phase_I	Q8N693	ESX1_HUMAN			2	391_426	-			103					B0QYU3|Q7Z6K7	In_Frame_Del	DEL	ENST00000372588.4	37	c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	CCDS14516.1																																																																																				0.712	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	0	NM_153448		X:103498998
GRIA3	2892	broad.mit.edu	37	X	122538758	122538759	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:122538758_122538759insA	ENST00000371251.1	+	10	1545_1546	c.1493_1494insA	c.(1492-1497)gtctatfs	p.Y499fs	GRIA3_ENST00000541091.1_Frame_Shift_Ins_p.Y483fs|GRIA3_ENST00000371256.5_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000542149.1_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000264357.5_Frame_Shift_Ins_p.Y499fs			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	499					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)	GGGGAACTTGTCTATGGGGTGA	0.376																																						ENST00000371256.5		NA																	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.(1492-1497)gtctatfs		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_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:122538758_122538759insA	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	Exception_encountered	X.37:g.122538758_122538759insA	ENSP00000360297:p.Tyr499fs	False	False		Somatic	0				GRIA3_ENST00000264357.5_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000542149.1_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000371251.1_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000541091.1_Frame_Shift_Ins_p.Y483fs	p.Y499fs	NM_007325.4	NP_015564.4	WXS	Illumina HiSeq	Phase_I	P42263	GRIA3_HUMAN			10	1545_1546	+			499					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Frame_Shift_Ins	INS	ENST00000371251.1	37	c.1493_1494insA	CCDS14604.1																																																																																				0.376	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	0	NM_000828		X:122538758
GRIA3	2892	broad.mit.edu	37	X	122538759	122538760	+	In_Frame_Ins	INS	-	-	ATTACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:122538759_122538760insATTACA	ENST00000371251.1	+	10	1546_1547	c.1494_1495insATTACA	c.(1495-1497)tat>ATTACAtat	p.498_499insIT	GRIA3_ENST00000541091.1_In_Frame_Ins_p.482_483insIT|GRIA3_ENST00000371256.5_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000542149.1_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000264357.5_In_Frame_Ins_p.498_499insIT			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	498					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)	GGGAACTTGTCTATGGGGTGAG	0.371																																						ENST00000371256.5		NA																	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.(1495-1497)tat>ATTACAtat		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)																																			SO:0001652	inframe_insertion	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:122538759_122538760insATTACA	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	Exception_encountered	X.37:g.122538759_122538760insATTACA	ENSP00000360297:p.Val498_Tyr499insIleThr	False	False		Somatic	0				GRIA3_ENST00000264357.5_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000542149.1_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000371251.1_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000541091.1_In_Frame_Ins_p.482_483insIT	p.498_499insIT	NM_007325.4	NP_015564.4	WXS	Illumina HiSeq	Phase_I	P42263	GRIA3_HUMAN			10	1546_1547	+			498					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	In_Frame_Ins	INS	ENST00000371251.1	37	c.1494_1495insATTACA	CCDS14604.1																																																																																				0.371	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	0	NM_000828		X:122538759
RYR2	6262	broad.mit.edu	37	1	237789076	237789077	+	Frame_Shift_Ins	INS	-	-	AATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:237789076_237789077insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	ENST00000366574.2	+	40	6455_6456	c.6138_6139insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	c.(6139-6141)ccafs	p.P2047fs	RYR2_ENST00000542537.1_Frame_Shift_Ins_p.P2031fs|RYR2_ENST00000360064.6_Frame_Shift_Ins_p.P2045fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2047	4 X approximate repeats.				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)			AAGCAGAAAAACCAGTTGAGAG	0.431																																						ENST00000366574.2		NA																	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.(6139-6141)ccafs		ryanodine receptor 2 (cardiac)																																				SO:0001589	frameshift_variant	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.chr1:237789076_237789077insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	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	Exception_encountered	1.37:g.237789076_237789077insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	ENSP00000355533:p.Pro2047fs	True	False		Somatic	0				RYR2_ENST00000360064.6_Frame_Shift_Ins_p.P2045fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.P2031fs	p.P2047fs	NM_001035.2	NP_001026.2	WXS	Illumina HiSeq	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6455_6456	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2047			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Frame_Shift_Ins	INS	ENST00000366574.2	37	c.6138_6139insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	CCDS55691.1																																																																																				0.431	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	NM_001035		1:237789076
OPN3	23596	broad.mit.edu	37	1	241761207	241761208	+	In_Frame_Ins	INS	-	-	CTTTGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:241761207_241761208insCTTTGC	ENST00000366554.2	-	3	891_892	c.785_786insGCAAAG	c.(784-786)ttc>ttGCAAAGc	p.262_262F>LQS	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_In_Frame_Ins_p.183_183F>LQS	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	262					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCAGGAAGGTGAATATCATTAA	0.386																																						ENST00000366554.2		NA																	0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(784-786)ttc>ttGCAAAGc		opsin 3																																				SO:0001652	inframe_insertion	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241761207_241761208insCTTTGC	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.785_786insGCAAAG	1.37:g.241761207_241761208insCTTTGC	ENSP00000355512:p.Phe262delinsLeuGlnSer	False	False		Somatic	0				OPN3_ENST00000331838.5_In_Frame_Ins_p.183_183F>LQS|OPN3_ENST00000469376.1_5'UTR	p.262_262F>LQS	NM_014322.2	NP_055137.2	WXS	Illumina HiSeq	Phase_I	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		3	891_892	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	262					Q8IX08|Q9Y344	In_Frame_Ins	INS	ENST00000366554.2	37	c.785_786insGCAAAG	CCDS31072.1																																																																																				0.386	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	0	NM_014322		1:241761207
WDR64	128025	broad.mit.edu	37	1	241913019	241913020	+	Frame_Shift_Ins	INS	-	-	CTTAGAGAAAGCTTGGCTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:241913019_241913020insCTTAGAGAAAGCTTGGCTT	ENST00000366552.2	+	13	1942_1943	c.1735_1736insCTTAGAGAAAGCTTGGCTT	c.(1735-1737)atcfs	p.I579fs	WDR64_ENST00000437684.2_Frame_Shift_Ins_p.I579fs	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	579										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TATCAAAATGATCCAGGTTTAC	0.51																																						ENST00000366552.2		NA																	0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1735-1737)atcfs		WD repeat domain 64																																				SO:0001589	frameshift_variant	128025							g.chr1:241913019_241913020insCTTAGAGAAAGCTTGGCTT	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	Exception_encountered	1.37:g.241913019_241913020insCTTAGAGAAAGCTTGGCTT	ENSP00000355510:p.Ile579fs	False	False		Somatic	0				WDR64_ENST00000437684.2_Frame_Shift_Ins_p.I579fs	p.I579fs	NM_144625.4	NP_653226.4	WXS	Illumina HiSeq	Phase_I	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		13	1942_1943	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	579					B1ANT0|Q7Z573|Q96LY9	Frame_Shift_Ins	INS	ENST00000366552.2	37	c.1735_1736insCTTAGAGAAAGCTTGGCTT																																																																																					0.510	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_144625		1:241913019
TRIM58	25893	broad.mit.edu	37	1	248039551	248039552	+	Frame_Shift_Ins	INS	-	-	CCCAGTAATG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:248039551_248039552insCCCAGTAATG	ENST00000366481.3	+	6	1269_1270	c.1221_1222insCCCAGTAATG	c.(1222-1224)cctfs	p.-408fs	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACTGGAAAGTCCTCGCTGCAT	0.485																																						ENST00000366481.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(1222-1224)cctfs		tripartite motif containing 58																																				SO:0001589	frameshift_variant	25893					intracellular	zinc ion binding	g.chr1:248039551_248039552insCCCAGTAATG	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	Exception_encountered	1.37:g.248039551_248039552insCCCAGTAATG	ENSP00000355437:p.Pro408fs	False	False		Somatic	0				OR2W3_ENST00000537741.1_Intron	p.-408fs	NM_015431.3	NP_056246.3	WXS	Illumina HiSeq	Phase_I	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1269_1270	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	NA					Q6B0H9	Frame_Shift_Ins	INS	ENST00000366481.3	37	c.1221_1222insCCCAGTAATG	CCDS1636.1																																																																																				0.485	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	0	NM_015431		1:248039551
OR2W3	343171	broad.mit.edu	37	1	248059353	248059355	+	In_Frame_Del	DEL	CTC	CTC	-	rs147816311|rs201631118	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:248059353_248059355delCTC	ENST00000360358.3	+	1	465_467	c.465_467delCTC	c.(463-468)aactcc>aac	p.S156del	OR2W3_ENST00000537741.1_In_Frame_Del_p.S156del	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S156F(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTGGCCAACTCCTTGGCCATG	0.64														104	0.0207668	0.0023	0.036	5008	,	,		19811	0.0		0.0477	False		,,,				2504	0.0286					ENST00000360358.3		NA																	1	Substitution - Missense(1)	p.S156F(1)	skin(1)	breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(463-468)aactcc>aac		olfactory receptor, family 2, subfamily W, member 3				41,4225		0,41,2092						2.8	1.0		dbSNP_134	74	413,7841		5,403,3719	no	coding	OR2W3	NM_001001957.2		5,444,5811	A1A1,A1R,RR		5.0036,0.9611,3.6262				454,12066				SO:0001651	inframe_deletion	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059353_248059355delCTC	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.465_467delCTC	1.37:g.248059353_248059355delCTC	ENSP00000353516:p.Ser156del	False	False		Somatic	1				OR2W3_ENST00000537741.1_In_Frame_Del_p.S156del	p.S156del	NM_001001957.2	NP_001001957.2	WXS	Illumina HiSeq	Phase_I	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	465_467	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		156					Q6IF06|Q8NG86	In_Frame_Del	DEL	ENST00000360358.3	37	c.465_467delCTC	CCDS31099.1																																																																																				0.640	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	0	NM_001001957		1:248059353
GEN1	348654	broad.mit.edu	37	2	17941373	17941374	+	Splice_Site	INS	-	-	GATTATCTGCTGTTATGTGAAACACACTTTACAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:17941373_17941374insGATTATCTGCTGTTATGTGAAACACACTTTACAAA	ENST00000381254.2	+	2	375		c.e2+2		GEN1_ENST00000317402.7_Splice_Site|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease						DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCACCTCAGGTATAGTAAAAGC	0.376								Homologous recombination																														ENST00000381254.2		NA																	0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.e2+2	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease																																				SO:0001630	splice_region_variant	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17941373_17941374insGATTATCTGCTGTTATGTGAAACACACTTTACAAA	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.161+2->GATTATCTGCTGTTATGTGAAACACACTTTACAAA	2.37:g.17941373_17941374insGATTATCTGCTGTTATGTGAAACACACTTTACAAA		False	False		Somatic	0				GEN1_ENST00000317402.7_Splice_Site|SMC6_ENST00000402989.1_Intron		NM_001130009.1	NP_001123481.1	WXS	Illumina HiSeq	Phase_I	Q17RS7	GEN_HUMAN			2	375	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		NA					Q17RS9|Q6ZN37	Splice_Site	INS	ENST00000381254.2	37		CCDS1691.1																																																																																				0.376	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	0	NM_182625	Intron	2:17941373
ITSN2	50618	broad.mit.edu	37	2	24533465	24533466	+	Frame_Shift_Ins	INS	-	-	TACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:24533465_24533466insTACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA	ENST00000355123.4	-	6	891_892	c.448_449insTTTACATGAAATAATGACTCTTTAGAAACAAAGTA	c.(448-450)cctfs	p.P150fs	ITSN2_ENST00000407704.1_5'Flank|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.P150fs|ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.P150fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	150					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTAAGGGAGGAAGGTTGGTC	0.48																																						ENST00000355123.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(448-450)cctfs		intersectin 2																																				SO:0001589	frameshift_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533465_24533466insTACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.448_449insTTTACATGAAATAATGACTCTTTAGAAACAAAGTA	2.37:g.24533465_24533466insTACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA	ENSP00000347244:p.Pro150fs	False	False		Somatic	0				ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.P150fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.P150fs	p.P150fs	NM_006277.2	NP_006268.2	WXS	Illumina HiSeq	Phase_I	Q9NZM3	ITSN2_HUMAN			6	891_892	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		150					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Ins	INS	ENST00000355123.4	37	c.448_449insTTTACATGAAATAATGACTCTTTAGAAACAAAGTA	CCDS1710.2																																																																																				0.480	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	0	NM_006277		2:24533465
SNX17	9784	broad.mit.edu	37	2	27598008	27598009	+	Frame_Shift_Ins	INS	-	-	CTTGATCTTGTCAGCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:27598008_27598009insCTTGATCTTGTCAGCT	ENST00000233575.2	+	9	984_985	c.762_763insCTTGATCTTGTCAGCT	c.(763-765)tccfs	p.S255fs	SNX17_ENST00000543024.1_Frame_Shift_Ins_p.S41fs|SNX17_ENST00000537606.1_Frame_Shift_Ins_p.S230fs|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000542478.1_Frame_Shift_Ins_p.S41fs	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	255	FERM-like.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGAAAGTCTCCAAGAAGGA	0.535																																						ENST00000233575.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(763-765)tccfs		sorting nexin 17																																				SO:0001589	frameshift_variant	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27598008_27598009insCTTGATCTTGTCAGCT	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	Exception_encountered	2.37:g.27598008_27598009insCTTGATCTTGTCAGCT	ENSP00000233575:p.Ser255fs	False	False		Somatic	0				SNX17_ENST00000543024.1_Frame_Shift_Ins_p.S41fs|SNX17_ENST00000542478.1_Frame_Shift_Ins_p.S41fs|SNX17_ENST00000537606.1_Frame_Shift_Ins_p.S230fs	p.S255fs	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	WXS	Illumina HiSeq	Phase_I	Q15036	SNX17_HUMAN			9	984_985	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		255					B4DQM7|Q53HN7|Q6IAS3	Frame_Shift_Ins	INS	ENST00000233575.2	37	c.762_763insCTTGATCTTGTCAGCT	CCDS1750.1																																																																																				0.535	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	0	NM_014748		2:27598008
PPM1B	5495	broad.mit.edu	37	2	44428513	44428514	+	Frame_Shift_Ins	INS	-	-	TGGGTTTATCCAAAAATGCACCC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:44428513_44428514insTGGGTTTATCCAAAAATGCACCC	ENST00000282412.4	+	2	587_588	c.175_176insTGGGTTTATCCAAAAATGCACCC	c.(175-177)tatfs	p.Y59fs	PPM1B_ENST00000378551.2_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Frame_Shift_Ins_p.Y59fs	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	59					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTTGCAGTTTATGATGGTCAT	0.45																																						ENST00000378551.2		NA																	0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(175-177)tatfs		protein phosphatase, Mg2+/Mn2+ dependent, 1B																																				SO:0001589	frameshift_variant	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428513_44428514insTGGGTTTATCCAAAAATGCACCC	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	Exception_encountered	2.37:g.44428513_44428514insTGGGTTTATCCAAAAATGCACCC	ENSP00000282412:p.Tyr59fs	True	False		Somatic	0				PPM1B_ENST00000409895.4_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000409432.3_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000282412.4_Frame_Shift_Ins_p.Y59fs	p.Y59fs	NM_177968.2	NP_808907.1	WXS	Illumina HiSeq	Phase_I	O75688	PPM1B_HUMAN			2	587_588	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	59					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Frame_Shift_Ins	INS	ENST00000282412.4	37	c.175_176insTGGGTTTATCCAAAAATGCACCC	CCDS1817.1																																																																																				0.450	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	0	NM_002706		2:44428513
AFTPH	54812	broad.mit.edu	37	2	64780441	64780442	+	Frame_Shift_Ins	INS	-	-	GTCCAATCTC	rs371892827		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:64780441_64780442insGTCCAATCTC	ENST00000422803.1	+	2	2147_2148	c.1833_1834insGTCCAATCTC	c.(1834-1836)attfs	p.I612fs	AFTPH_ENST00000238856.4_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000409933.1_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000409183.1_Frame_Shift_Ins_p.I243fs|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Frame_Shift_Ins_p.I612fs			Q6ULP2	AFTIN_HUMAN	aftiphilin	612					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CAGATGAAAATATTGATACTCC	0.455																																						ENST00000238856.4		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1834-1836)attfs		aftiphilin																																				SO:0001589	frameshift_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780441_64780442insGTCCAATCTC	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	Exception_encountered	2.37:g.64780441_64780442insGTCCAATCTC	ENSP00000397726:p.Ile612fs	False	False		Somatic	0				AFTPH_ENST00000238855.7_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000409933.1_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000422803.1_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Frame_Shift_Ins_p.I243fs	p.I612fs	NM_001002243.2|NM_017657.4	NP_001002243.1|NP_060127.3	WXS	Illumina HiSeq	Phase_I	Q6ULP2	AFTIN_HUMAN			2	2147_2148	+			612					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Frame_Shift_Ins	INS	ENST00000422803.1	37	c.1833_1834insGTCCAATCTC																																																																																					0.455	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		0	NM_017657		2:64780441
PTCD3	55037	broad.mit.edu	37	2	86364188	86364189	+	Frame_Shift_Ins	INS	-	-	ATCCAGTGTAAGTTCAGTAACAGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:86364188_86364189insATCCAGTGTAAGTTCAGTAACAGAA	ENST00000254630.7	+	23	1970_1971	c.1904_1905insATCCAGTGTAAGTTCAGTAACAGAA	c.(1903-1908)agtgccfs	p.SA635fs	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	635					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGCTGGCAAGTGCCTTCAGCT	0.446																																						ENST00000254630.7		NA																	0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(1903-1908)agtgccfs		pentatricopeptide repeat domain 3																																				SO:0001589	frameshift_variant	55037					mitochondrion	protein binding	g.chr2:86364188_86364189insATCCAGTGTAAGTTCAGTAACAGAA		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	Exception_encountered	2.37:g.86364188_86364189insATCCAGTGTAAGTTCAGTAACAGAA	ENSP00000254630:p.Ser635fs	False	False		Somatic	0					p.SA635fs	NM_017952.5	NP_060422.4	WXS	Illumina HiSeq	Phase_I	Q96EY7	PTCD3_HUMAN			23	1970_1971	+			635					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Frame_Shift_Ins	INS	ENST00000254630.7	37	c.1904_1905insATCCAGTGTAAGTTCAGTAACAGAA	CCDS33235.1																																																																																				0.446	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	0	NM_017952		2:86364188
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
TTL	150465	broad.mit.edu	37	2	113260636	113260637	+	In_Frame_Ins	INS	-	-	TTTCTGCATATTATATAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:113260636_113260637insTTTCTGCATATTATATAC	ENST00000233336.6	+	5	944_945	c.753_754insTTTCTGCATATTATATAC	c.(754-756)aac>TTTCTGCATATTATATACaac	p.251_252insFLHIIY		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	251	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGTATTCAAAGAACTACGGGAA	0.376			T	ETV6	ALL																																	ENST00000233336.5		NA		Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(754-756)aac>TTTCTGCATATTATATACaac		tubulin tyrosine ligase																																				SO:0001652	inframe_insertion	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113260636_113260637insTTTCTGCATATTATATAC		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	Exception_encountered	2.37:g.113260636_113260637insTTTCTGCATATTATATAC	ENSP00000233336:p.Lys251_Asn252insPheLeuHisIleIleTyr	False	False		Somatic	0					p.251_252insFLHIIY	NM_153712.4	NP_714923.1	WXS	Illumina HiSeq	Phase_I	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	944_945	+		Ovarian(717;0.024)	251			TTL.		Q585T3|Q7Z302|Q8N426	In_Frame_Ins	INS	ENST00000233336.6	37	c.753_754insTTTCTGCATATTATATAC	CCDS2096.1																																																																																				0.376	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	0	NM_153712		2:113260636
ZRANB3	84083	broad.mit.edu	37	2	136071173	136071174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136071173_136071174insG	ENST00000264159.6	-	8	967_968	c.851_852insC	c.(850-852)gaafs	p.E284fs	ZRANB3_ENST00000536680.1_Frame_Shift_Ins_p.E284fs|ZRANB3_ENST00000401392.1_Frame_Shift_Ins_p.E284fs	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	284	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGGTATTCAATTCCTATGTGGG	0.342																																						ENST00000401392.1		NA																	0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(850-852)gaafs		zinc finger, RAN-binding domain containing 3																																				SO:0001589	frameshift_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136071173_136071174insG	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.851_852insC	2.37:g.136071173_136071174insG	ENSP00000264159:p.Glu284fs	False	False		Somatic	0				ZRANB3_ENST00000536680.1_Frame_Shift_Ins_p.E284fs|ZRANB3_ENST00000264159.6_Frame_Shift_Ins_p.E284fs	p.E284fs			WXS	Illumina HiSeq	Phase_I	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	8	1063_1064	-			284					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Frame_Shift_Ins	INS	ENST00000264159.6	37	c.851_852insC	CCDS46419.1																																																																																				0.342	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	0	NM_032143		2:136071173
ZRANB3	84083	broad.mit.edu	37	2	136071175	136071176	+	Splice_Site	INS	-	-	TTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136071175_136071176insTTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT	ENST00000264159.6	-	8	966	c.850_850insAAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAA	c.(850-852)gaa>AAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAAgaa	p.E284fs	ZRANB3_ENST00000536680.1_Splice_Site_p.E284fs|ZRANB3_ENST00000401392.1_Splice_Site_p.E284fs	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	284	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTATTCAATTCCTATGTGGGAA	0.342																																						ENST00000401392.1		NA																	0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(850-852)gaa>AAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAAgaa		zinc finger, RAN-binding domain containing 3																																				SO:0001630	splice_region_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136071175_136071176insTTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.850-1->AAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAA	2.37:g.136071175_136071176insTTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT		False	False		Somatic	0				ZRANB3_ENST00000536680.1_Splice_Site_p.E284fs|ZRANB3_ENST00000264159.6_Splice_Site_p.E284fs	p.E284fs			WXS	Illumina HiSeq	Phase_I	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	8	1062	-			284					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Splice_Site	INS	ENST00000264159.6	37	c.850_850insAAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAA	CCDS46419.1																																																																																				0.342	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	0	NM_032143	Frame_Shift_Ins	2:136071175
UBXN4	23190	broad.mit.edu	37	2	136540358	136540359	+	Frame_Shift_Ins	INS	-	-	CATTATATCTACTAACACA	rs547954260		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136540358_136540359insCATTATATCTACTAACACA	ENST00000272638.9	+	13	1739_1740	c.1428_1429insCATTATATCTACTAACACA	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACGTGGAGACGACTTTAAAAA	0.371																																						ENST00000272638.9		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1429-1431)gacfs		UBX domain protein 4																																				SO:0001589	frameshift_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136540358_136540359insCATTATATCTACTAACACA	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	Exception_encountered	2.37:g.136540358_136540359insCATTATATCTACTAACACA	ENSP00000272638:p.Asp477fs	False	False		Somatic	0				UBXN4_ENST00000490163.1_3'UTR	p.D477fs	NM_014607.3	NP_055422.1	WXS	Illumina HiSeq	Phase_I	Q92575	UBXN4_HUMAN			13	1739_1740	+			477					A8K9W4|Q4ZG56|Q8IYM5	Frame_Shift_Ins	INS	ENST00000272638.9	37	c.1428_1429insCATTATATCTACTAACACA	CCDS42761.1																																																																																				0.371	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	0	NM_014607		2:136540358
UBXN4	23190	broad.mit.edu	37	2	136540359	136540360	+	Frame_Shift_Ins	INS	-	-	T	rs547954260		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136540359_136540360insT	ENST00000272638.9	+	13	1740_1741	c.1429_1430insT	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACGTGGAGACGACTTTAAAAAG	0.371																																						ENST00000272638.9		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1429-1431)gacfs		UBX domain protein 4																																				SO:0001589	frameshift_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136540359_136540360insT	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	Exception_encountered	2.37:g.136540359_136540360insT	ENSP00000272638:p.Asp477fs	False	False		Somatic	0				UBXN4_ENST00000490163.1_3'UTR	p.D477fs	NM_014607.3	NP_055422.1	WXS	Illumina HiSeq	Phase_I	Q92575	UBXN4_HUMAN			13	1740_1741	+			477					A8K9W4|Q4ZG56|Q8IYM5	Frame_Shift_Ins	INS	ENST00000272638.9	37	c.1429_1430insT	CCDS42761.1																																																																																				0.371	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	0	NM_014607		2:136540359
GTDC1	79712	broad.mit.edu	37	2	144899594	144899595	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:144899594_144899595insT	ENST00000392869.2	-	5	527_528	c.375_376insA	c.(373-378)aactcafs	p.S126fs	GTDC1_ENST00000392867.3_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000542155.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000241391.5_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000409214.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000409298.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000344850.4_Frame_Shift_Ins_p.S126fs	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	126					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTAAAAACTGAGTTGAATACAA	0.391																																						ENST00000409214.1		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(373-378)aactcafs		glycosyltransferase-like domain containing 1																																				SO:0001589	frameshift_variant	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144899594_144899595insT	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.375_376insA	2.37:g.144899594_144899595insT	ENSP00000376608:p.Ser126fs	False	False		Somatic	0				GTDC1_ENST00000409298.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000344850.4_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000542155.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000392867.3_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000392869.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000241391.5_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000463875.2_5'UTR	p.S126fs	NM_001006636.3	NP_001006637.1	WXS	Illumina HiSeq	Phase_I	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	6	653_654	-			126					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Frame_Shift_Ins	INS	ENST00000392869.2	37	c.375_376insA	CCDS33300.1																																																																																				0.391	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	0	NM_024659		2:144899594
GTDC1	79712	broad.mit.edu	37	2	144899595	144899596	+	Frame_Shift_Ins	INS	-	-	TTCTTCATGCCAGTTTTAACTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:144899595_144899596insTTCTTCATGCCAGTTTTAACTT	ENST00000392869.2	-	5	526_527	c.374_375insAAGTTAAAACTGGCATGAAGAA	c.(373-375)aacfs	p.N125fs	GTDC1_ENST00000392867.3_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000463875.2_De_novo_Start_InFrame|GTDC1_ENST00000542155.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000241391.5_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000409214.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000409298.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000344850.4_Frame_Shift_Ins_p.N125fs	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	125					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TAAAAACTGAGTTGAATACAAC	0.396																																						ENST00000463875.2		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25								glycosyltransferase-like domain containing 1																																				SO:0001589	frameshift_variant	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144899595_144899596insTTCTTCATGCCAGTTTTAACTT	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.374_375insAAGTTAAAACTGGCATGAAGAA	2.37:g.144899595_144899596insTTCTTCATGCCAGTTTTAACTT	ENSP00000376608:p.Asn125fs	False	False		Somatic	0				GTDC1_ENST00000409298.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000344850.4_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000542155.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000392867.3_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000392869.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000241391.5_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000409214.1_Frame_Shift_Ins_p.N125fs				WXS	Illumina HiSeq	Phase_I	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	0	334_335	-			NA					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Translation_Start_Site	INS	ENST00000392869.2	37		CCDS33300.1																																																																																				0.396	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	0	NM_024659		2:144899595
NEB	4703	broad.mit.edu	37	2	152487757	152487758	+	Intron	INS	-	-	TATA	rs376224722		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:152487757_152487758insTATA	ENST00000172853.10	-	63	9037				NEB_ENST00000603639.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000409198.1_Intron			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)		GTAGATGTTATCACTCAGTATT	0.48																																						ENST00000604864.1		NA																	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.(9517-9519)gatfs		nebulin																																				SO:0001627	intron_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.chr2:152487757_152487758insTATA	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.8890-424->TATA	2.37:g.152487757_152487758insTATA		False	False		Somatic	0				NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D3173fs	p.D3173fs			WXS	Illumina HiSeq	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	64	9516_9517	-			3173					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.9517_9518insTATA																																																																																					0.480	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004543		2:152487757
NEB	4703	broad.mit.edu	37	2	152487758	152487759	+	Intron	INS	-	-	TTTAATG	rs376224722		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:152487758_152487759insTTTAATG	ENST00000172853.10	-	63	9037				NEB_ENST00000603639.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000409198.1_Intron			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)		TAGATGTTATCACTCAGTATTT	0.475																																						ENST00000604864.1		NA																	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.(9514-9519)agtgatfs		nebulin																																				SO:0001627	intron_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.chr2:152487758_152487759insTTTAATG	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.8890-425->CATTAAA	2.37:g.152487758_152487759insTTTAATG		False	False		Somatic	0				NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D3173fs	p.D3173fs			WXS	Illumina HiSeq	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	64	9515_9516	-			3173					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.9516_9517insCATTAAA																																																																																					0.475	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004543		2:152487758
SPEN	23013	broad.mit.edu	37	1	16259132	16259133	+	Frame_Shift_Ins	INS	-	-	TTTTCTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:16259132_16259133insTTTTCTC	ENST00000375759.3	+	11	6601_6602	c.6397_6398insTTTTCTC	c.(6397-6399)ttafs	p.L2133fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2133	Interaction with MSX2. {ECO:0000250}.				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)			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)		GGAGGATGGTTTATCATCCCAG	0.564																																						ENST00000375759.3		NA																	0				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.(6397-6399)ttafs		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.chr1:16259132_16259133insTTTTCTC		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	Exception_encountered	1.37:g.16259132_16259133insTTTTCTC	ENSP00000364912:p.Leu2133fs	True	False		Somatic	0					p.L2133fs	NM_015001.2	NP_055816.2	WXS	Illumina HiSeq	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	6601_6602	+		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)	2133			Interaction with MSX2 (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6397_6398insTTTTCTC	CCDS164.1																																																																																				0.564	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	0	NM_015001		1:16259132
SPEN	23013	broad.mit.edu	37	1	16259134	16259135	+	Frame_Shift_Ins	INS	-	-	CAACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:16259134_16259135insCAACT	ENST00000375759.3	+	11	6603_6604	c.6399_6400insCAACT	c.(6400-6402)tcafs	p.S2134fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2134	Interaction with MSX2. {ECO:0000250}.				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)			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)		AGGATGGTTTATCATCCCAGTT	0.559																																						ENST00000375759.3		NA																	0				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.(6400-6402)tcafs		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.chr1:16259134_16259135insCAACT		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	Exception_encountered	1.37:g.16259134_16259135insCAACT	ENSP00000364912:p.Ser2134fs	False	False		Somatic	0					p.S2134fs	NM_015001.2	NP_055816.2	WXS	Illumina HiSeq	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	6603_6604	+		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)	2134			Interaction with MSX2 (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6399_6400insCAACT	CCDS164.1																																																																																				0.559	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	0	NM_015001		1:16259134
COBLL1	22837	broad.mit.edu	37	2	165600362	165600363	+	Frame_Shift_Ins	INS	-	-	AAATATCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:165600362_165600363insAAATATCA	ENST00000392717.2	-	3	182_183	c.178_179insTGATATTT	c.(178-180)ccafs	p.P60fs	COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.P60fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.P75fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.P22fs|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000375458.2_Frame_Shift_Ins_p.P22fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	60						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGAGGAAGTGGTGCCTTGGCT	0.307																																						ENST00000375458.2		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(64-66)ccafs		cordon-bleu WH2 repeat protein-like 1																																				SO:0001589	frameshift_variant	22837							g.chr2:165600362_165600363insAAATATCA	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.178_179insTGATATTT	2.37:g.165600362_165600363insAAATATCA	ENSP00000376478:p.Pro60fs	False	False		Somatic	0				COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.P60fs|COBLL1_ENST00000392717.2_Frame_Shift_Ins_p.P60fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.P22fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.P75fs|COBLL1_ENST00000491126.2_Intron	p.P22fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	WXS	Illumina HiSeq	Phase_I	Q53SF7	COBL1_HUMAN			2	285_286	-			60					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Ins	INS	ENST00000392717.2	37	c.64_65insTGATATTT																																																																																					0.307	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_014900		2:165600362
TTN	7273	broad.mit.edu	37	2	179516022	179516023	+	Frame_Shift_Ins	INS	-	-	TTTTTAGGGTCTGAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179516022_179516023insTTTTTAGGGTCTGAAT	ENST00000591111.1	-	163	35275_35276	c.35051_35052insATTCAGACCCTAAAAA	c.(35050-35052)gttfs	p.-11684fs	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.-10757fs|TTN_ENST00000589042.1_Frame_Shift_Ins_p.-13191fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TCTTTTCTGGAACAACTTCTTT	0.371																																						ENST00000589042.1		NA																	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.(39571-39573)gttfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516022_179516023insTTTTTAGGGTCTGAAT	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.35051_35052insATTCAGACCCTAAAAA	2.37:g.179516022_179516023insTTTTTAGGGTCTGAAT	ENSP00000465570:p.Val11684fs	False	False		Somatic	0				TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.-10757fs|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.-11684fs	p.-13191fs	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		208	39796_39797	-			NA					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	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.39572_39573insATTCAGACCCTAAAAA																																																																																					0.371	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179516022
DUSP19	142679	broad.mit.edu	37	2	183943878	183943879	+	In_Frame_Ins	INS	-	-	GCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:183943878_183943879insGCA	ENST00000354221.4	+	1	392_393	c.217_218insGCA	c.(217-219)ttg>tGCAtg	p.73_73L>CM	DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_In_Frame_Ins_p.73_73L>CM	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	73					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TAAGCCATGGTTGCTCCTAGGT	0.455																																						ENST00000354221.4		NA																	0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						c.(217-219)ttg>tGCAtg		dual specificity phosphatase 19																																				SO:0001652	inframe_insertion	0				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	g.chr2:183943878_183943879insGCA	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	Exception_encountered	2.37:g.183943878_183943879insGCA	ENSP00000346160:p.Leu73delinsCysMet	False	False		Somatic	0				DUSP19_ENST00000342619.6_In_Frame_Ins_p.73_73L>CM|DUSP19_ENST00000469344.1_3'UTR	p.73_73L>CM	NM_080876.3	NP_543152.1	WXS	Illumina HiSeq	Phase_I	Q8WTR2	DUS19_HUMAN			1	392_393	+			73					B2RA79|Q547H4|Q8WYN4	In_Frame_Ins	INS	ENST00000354221.4	37	c.217_218insGCA	CCDS2289.1																																																																																				0.455	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1	0			2:183943878
DNAH7	56171	broad.mit.edu	37	2	196729645	196729646	+	In_Frame_Ins	INS	-	-	CCTTGTCTTGTTTCG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:196729645_196729646insCCTTGTCTTGTTTCG	ENST00000312428.6	-	41	6833_6834	c.6733_6734insCGAAACAAGACAAGG	c.(6733-6735)ttt>tCGAAACAAGACAAGGtt	p.2245_2245F>SKQDKV		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2245					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						AAGCTCATGAAAATCTTCATAC	0.401																																						ENST00000312428.6		NA																	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.(6733-6735)ttt>tCGAAACAAGACAAGGtt		dynein, axonemal, heavy chain 7																																				SO:0001652	inframe_insertion	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729645_196729646insCCTTGTCTTGTTTCG	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.6733_6734insCGAAACAAGACAAGG	2.37:g.196729645_196729646insCCTTGTCTTGTTTCG	ENSP00000311273:p.Phe2245delinsSerLysGlnAspLysVal	True	False		Somatic	0					p.2245_2245F>SKQDKV	NM_018897.2	NP_061720.2	WXS	Illumina HiSeq	Phase_I	Q8WXX0	DYH7_HUMAN			41	6833_6834	-			2245					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	In_Frame_Ins	INS	ENST00000312428.6	37	c.6733_6734insCGAAACAAGACAAGG	CCDS42794.1																																																																																				0.401	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	NM_018897		2:196729645
DNAH7	56171	broad.mit.edu	37	2	196737189	196737190	+	Frame_Shift_Ins	INS	-	-	TCCTGTTATTGAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:196737189_196737190insTCCTGTTATTGAA	ENST00000312428.6	-	40	6517_6518	c.6417_6418insTTCAATAACAGGA	c.(6415-6420)tataaafs	p.YK2139fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2139	AAA 3. {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						TCTGGaaatttataacttaaaa	0.282																																						ENST00000312428.6		NA																	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.(6415-6420)tataaafs		dynein, axonemal, heavy chain 7																																				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737189_196737190insTCCTGTTATTGAA	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.6417_6418insTTCAATAACAGGA	2.37:g.196737189_196737190insTCCTGTTATTGAA	ENSP00000311273:p.Tyr2139fs	True	False		Somatic	0					p.YK2139fs	NM_018897.2	NP_061720.2	WXS	Illumina HiSeq	Phase_I	Q8WXX0	DYH7_HUMAN			40	6517_6518	-			2139			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.6417_6418insTTCAATAACAGGA	CCDS42794.1																																																																																				0.282	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	NM_018897		2:196737189
PLCL1	5334	broad.mit.edu	37	2	198953688	198953689	+	Frame_Shift_Ins	INS	-	-	CAGGTTTACAGAAAAGTACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:198953688_198953689insCAGGTTTACAGAAAAGTACA	ENST00000428675.1	+	3	3220_3221	c.2822_2823insCAGGTTTACAGAAAAGTACA	c.(2821-2826)ccttcafs	p.S942fs	PLCL1_ENST00000437704.2_Frame_Shift_Ins_p.S844fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	942					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACAATACTCCTTCAGTCTCAC	0.465																																						ENST00000428675.1		NA																	0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2821-2826)ccttcafs		phospholipase C-like 1	Quinacrine(DB01103)																																			SO:0001589	frameshift_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198953688_198953689insCAGGTTTACAGAAAAGTACA	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	Exception_encountered	2.37:g.198953688_198953689insCAGGTTTACAGAAAAGTACA	ENSP00000402861:p.Ser942fs	False	False		Somatic	0				PLCL1_ENST00000437704.2_Frame_Shift_Ins_p.S844fs	p.S942fs	NM_006226.3	NP_006217.3	WXS	Illumina HiSeq	Phase_I	Q15111	PLCL1_HUMAN			3	3220_3221	+			942					Q3MJ90|Q53SD3|Q7Z3S3	Frame_Shift_Ins	INS	ENST00000428675.1	37	c.2822_2823insCAGGTTTACAGAAAAGTACA	CCDS2326.2																																																																																				0.465	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	0	NM_006226		2:198953688
SP140	11262	broad.mit.edu	37	2	231112711	231112712	+	In_Frame_Ins	INS	-	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:231112711_231112712insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	ENST00000392045.3	+	8	937_938	c.823_824insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	c.(823-825)agg>aTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGTgg	p.275_275R>ISESVCNFHIISLD*W	SP140_ENST00000486687.2_Intron|SP140_ENST00000343805.6_In_Frame_Ins_p.249_249R>ISESVCNFHIISLD*W|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000350136.5_Intron	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	275					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGAAGGCAGGAACAGTCCC	0.48																																						ENST00000343805.6		NA																	0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(745-747)agg>aTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGTgg		SP140 nuclear body protein																																				SO:0001652	inframe_insertion	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231112711_231112712insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	Exception_encountered	2.37:g.231112711_231112712insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	ENSP00000375899:p.Arg275delinsIleSerGluSerValCysAsnPheHisIleIleSerLeuAsp*Trp	False	False		Somatic	0				SP140_ENST00000392045.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000486687.2_Intron	p.249_249R>ISESVCNFHIISLD*W	NM_001278452.1	NP_001265381.1	WXS	Illumina HiSeq	Phase_I	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	7	845_846	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	275					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	In_Frame_Ins	INS	ENST00000392045.3	37	c.745_746insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	CCDS42831.1																																																																																				0.480	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	0	NM_007237		2:231112711
UGT1A6	54578	broad.mit.edu	37	2	234677033	234677034	+	In_Frame_Ins	INS	-	-	CAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:234677033_234677034insCAC	ENST00000305139.6	+	4	1388_1389	c.1249_1250insCAC	c.(1249-1251)atg>aCACtg	p.417_417M>TL	UGT1A10_ENST00000344644.5_In_Frame_Ins_p.415_415M>TL|UGT1A1_ENST00000609767.1_In_Frame_Ins_p.419_419M>TL|UGT1A6_ENST00000373424.1_In_Frame_Ins_p.150_150M>TL|UGT1A10_ENST00000373445.1_In_Frame_Ins_p.415_415M>TL|UGT1A1_ENST00000608381.1_In_Frame_Ins_p.419_419M>TL|UGT1A8_ENST00000305208.5_In_Frame_Ins_p.418_418M>TL|UGT1A6_ENST00000406651.1_In_Frame_Ins_p.150_150M>TL|UGT1A9_ENST00000354728.4_In_Frame_Ins_p.415_415M>TL|UGT1A7_ENST00000373426.3_In_Frame_Ins_p.415_415M>TL|UGT1A4_ENST00000373409.3_In_Frame_Ins_p.419_419M>TL|UGT1A1_ENST00000608383.1_In_Frame_Ins_p.418_418M>TL|UGT1A1_ENST00000609637.1_In_Frame_Ins_p.415_415M>TL|UGT1A3_ENST00000482026.1_In_Frame_Ins_p.419_419M>TL|UGT1A1_ENST00000373450.4_In_Frame_Ins_p.415_415M>TL|UGT1A1_ENST00000360418.3_In_Frame_Ins_p.418_418M>TL|UGT1A5_ENST00000373414.3_In_Frame_Ins_p.419_419M>TL	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	417					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)	TGTTCTGGAAATGACTTCTGAA	0.416																																						ENST00000305139.6		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1249-1251)atg>aCACtg																																						SO:0001652	inframe_insertion	0							g.chr2:234677033_234677034insCAC	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	Exception_encountered	2.37:g.234677033_234677034insCAC	ENSP00000303174:p.Met417delinsThrLeu	True	False		Somatic	0				UGT1A4_ENST00000373409.3_In_Frame_Ins_p.419_419M>TL|UGT1A5_ENST00000373414.3_In_Frame_Ins_p.419_419M>TL|UGT1A1_ENST00000305208.5_In_Frame_Ins_p.418_418M>TL|UGT1A1_ENST00000360418.3_In_Frame_Ins_p.418_418M>TL|UGT1A3_ENST00000482026.1_In_Frame_Ins_p.419_419M>TL|UGT1A6_ENST00000406651.1_In_Frame_Ins_p.150_150M>TL|UGT1A6_ENST00000373424.1_In_Frame_Ins_p.150_150M>TL|UGT1A7_ENST00000373426.3_In_Frame_Ins_p.415_415M>TL|UGT1A10_ENST00000373445.1_In_Frame_Ins_p.415_415M>TL|UGT1A8_ENST00000373450.4_In_Frame_Ins_p.415_415M>TL|UGT1A9_ENST00000354728.4_In_Frame_Ins_p.415_415M>TL|UGT1A10_ENST00000344644.5_In_Frame_Ins_p.415_415M>TL	p.417_417M>TL	NM_001072.3	NP_001063.2	WXS	Illumina HiSeq	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)	4	1388_1389	+		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)	NA					A6NKK6|B8K289|Q96TE7	In_Frame_Ins	INS	ENST00000305139.6	37	c.1249_1250insCAC	CCDS2507.1																																																																																				0.416	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	0	NM_205862		2:234677033
UGT1A6	54578	broad.mit.edu	37	2	234677034	234677035	+	Frame_Shift_Ins	INS	-	-	CCAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:234677034_234677035insCCAAA	ENST00000305139.6	+	4	1389_1390	c.1250_1251insCCAAA	c.(1249-1254)atgactfs	p.MT417fs	UGT1A10_ENST00000344644.5_Frame_Shift_Ins_p.MT415fs|UGT1A1_ENST00000609767.1_Frame_Shift_Ins_p.MT419fs|UGT1A6_ENST00000373424.1_Frame_Shift_Ins_p.MT150fs|UGT1A10_ENST00000373445.1_Frame_Shift_Ins_p.MT415fs|UGT1A1_ENST00000608381.1_Frame_Shift_Ins_p.MT419fs|UGT1A8_ENST00000305208.5_Frame_Shift_Ins_p.MT418fs|UGT1A6_ENST00000406651.1_Frame_Shift_Ins_p.MT150fs|UGT1A9_ENST00000354728.4_Frame_Shift_Ins_p.MT415fs|UGT1A7_ENST00000373426.3_Frame_Shift_Ins_p.MT415fs|UGT1A4_ENST00000373409.3_Frame_Shift_Ins_p.MT419fs|UGT1A1_ENST00000608383.1_Frame_Shift_Ins_p.MT418fs|UGT1A1_ENST00000609637.1_Frame_Shift_Ins_p.MT415fs|UGT1A3_ENST00000482026.1_Frame_Shift_Ins_p.MT419fs|UGT1A1_ENST00000373450.4_Frame_Shift_Ins_p.MT415fs|UGT1A1_ENST00000360418.3_Frame_Shift_Ins_p.MT418fs|UGT1A5_ENST00000373414.3_Frame_Shift_Ins_p.MT419fs	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	417					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)	GTTCTGGAAATGACTTCTGAAG	0.416																																						ENST00000305139.6		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1249-1254)atgactfs																																						SO:0001589	frameshift_variant	0							g.chr2:234677034_234677035insCCAAA	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	Exception_encountered	2.37:g.234677034_234677035insCCAAA	ENSP00000303174:p.Met417fs	False	False		Somatic	0				UGT1A4_ENST00000373409.3_Frame_Shift_Ins_p.MT419fs|UGT1A5_ENST00000373414.3_Frame_Shift_Ins_p.MT419fs|UGT1A1_ENST00000305208.5_Frame_Shift_Ins_p.MT418fs|UGT1A1_ENST00000360418.3_Frame_Shift_Ins_p.MT418fs|UGT1A3_ENST00000482026.1_Frame_Shift_Ins_p.MT419fs|UGT1A6_ENST00000406651.1_Frame_Shift_Ins_p.MT150fs|UGT1A6_ENST00000373424.1_Frame_Shift_Ins_p.MT150fs|UGT1A7_ENST00000373426.3_Frame_Shift_Ins_p.MT415fs|UGT1A10_ENST00000373445.1_Frame_Shift_Ins_p.MT415fs|UGT1A8_ENST00000373450.4_Frame_Shift_Ins_p.MT415fs|UGT1A9_ENST00000354728.4_Frame_Shift_Ins_p.MT415fs|UGT1A10_ENST00000344644.5_Frame_Shift_Ins_p.MT415fs	p.MT417fs	NM_001072.3	NP_001063.2	WXS	Illumina HiSeq	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)	4	1389_1390	+		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)	NA					A6NKK6|B8K289|Q96TE7	Frame_Shift_Ins	INS	ENST00000305139.6	37	c.1250_1251insCCAAA	CCDS2507.1																																																																																				0.416	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	0	NM_205862		2:234677034
LRRFIP1	9208	broad.mit.edu	37	2	238668816	238668817	+	Frame_Shift_Ins	INS	-	-	CTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:238668816_238668817insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	ENST00000392000.4	+	10	974_975	c.857_858insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	c.(856-861)aatgccfs	p.A287fs	LRRFIP1_ENST00000308482.9_Frame_Shift_Ins_p.A477fs|LRRFIP1_ENST00000289175.6_Frame_Shift_Ins_p.A231fs|LRRFIP1_ENST00000244815.5_Frame_Shift_Ins_p.A263fs	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	287					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAAGAGTTAAATGCCCTCAAGT	0.46																																						ENST00000308482.9		NA																	0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1426-1431)aatgccfs		leucine rich repeat (in FLII) interacting protein 1																																				SO:0001589	frameshift_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238668816_238668817insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	Exception_encountered	2.37:g.238668816_238668817insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	ENSP00000375857:p.Ala287fs	True	False		Somatic	0				LRRFIP1_ENST00000244815.5_Frame_Shift_Ins_p.A263fs|LRRFIP1_ENST00000392000.4_Frame_Shift_Ins_p.A287fs|LRRFIP1_ENST00000289175.6_Frame_Shift_Ins_p.A231fs	p.A477fs	NM_001137550.1	NP_001131022.1	WXS	Illumina HiSeq	Phase_I	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	19	1496_1497	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	529					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Frame_Shift_Ins	INS	ENST00000392000.4	37	c.1427_1428insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	CCDS46552.1																																																																																				0.460	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	0	NM_004735		2:238668816
RAD18	56852	broad.mit.edu	37	3	8983479	8983480	+	Frame_Shift_Ins	INS	-	-	CCTCA	rs143654080		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:8983479_8983480insCCTCA	ENST00000264926.2	-	5	391_392	c.275_276insTGAGG	c.(274-276)ctgfs	p.-92fs	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase						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)		CAAACTGCAGCAGATGATTCCT	0.381								Rad6 pathway																														ENST00000264926.2		NA																	0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(274-276)ctgfs	Rad6 pathway	RAD18 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8983479_8983480insCCTCA		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.275_276insTGAGG	3.37:g.8983479_8983480insCCTCA	ENSP00000264926:p.Leu92fs	False	False		Somatic	0				RAD18_ENST00000495087.1_5'UTR	p.-92fs	NM_020165.3	NP_064550.3	WXS	Illumina HiSeq	Phase_I	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	5	391_392	-			NA					Q58F55|Q9NRT6	Frame_Shift_Ins	INS	ENST00000264926.2	37	c.275_276insTGAGG	CCDS2571.1																																																																																				0.381	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	0	NM_020165		3:8983479
SETD5	55209	broad.mit.edu	37	3	9483355	9483356	+	Frame_Shift_Ins	INS	-	-	AAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:9483355_9483356insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	ENST00000406341.1	+	8	1079_1080	c.889_890insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	c.(889-891)cttfs	p.L297fs	SETD5_ENST00000402466.1_Frame_Shift_Ins_p.L199fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.L316fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.L199fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.L297fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	297	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTTGGACACTCTTATAATAGAG	0.431																																						ENST00000406341.1		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(889-891)cttfs		SET domain containing 5																																				SO:0001589	frameshift_variant	55209							g.chr3:9483355_9483356insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	Exception_encountered	3.37:g.9483355_9483356insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	ENSP00000383939:p.Leu297fs	False	False		Somatic	0				SETD5_ENST00000407969.1_Frame_Shift_Ins_p.L316fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.L199fs|SETD5_ENST00000402466.1_Frame_Shift_Ins_p.L199fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.L297fs	p.L297fs			WXS	Illumina HiSeq	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	8	1079_1080	+	Medulloblastoma(99;0.227)		297			SET.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Frame_Shift_Ins	INS	ENST00000406341.1	37	c.889_890insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	CCDS46741.1																																																																																				0.431	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	0	XM_371614		3:9483355
SLC22A14	9389	broad.mit.edu	37	3	38349147	38349150	+	Frame_Shift_Del	DEL	TTTG	TTTG	-	rs138257211|rs572026081	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTTG	TTTG	-	-	TTTG	TTTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:38349147_38349150delTTTG	ENST00000273173.4	+	3	802_805	c.711_714delTTTG	c.(709-714)tatttgfs	p.YL237fs	SLC22A14_ENST00000448498.1_Frame_Shift_Del_p.YL237fs	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	237					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.L238fs*25(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TTCACCTGTATTTGTTCTTTCGCT	0.564														61	0.0121805	0.0008	0.0115	5008	,	,		20743	0.0		0.0288	False		,,,				2504	0.0235					ENST00000273173.4		NA																	1	Deletion - Frameshift(1)	p.L238fs*25(1)	kidney(1)	central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(709-714)tatttgfs		solute carrier family 22, member 14				28,4238		1,26,2106						3.8	0.0		dbSNP_131	191	288,7966		6,276,3845	yes	frameshift	SLC22A14	NM_004803.3		7,302,5951	A1A1,A1R,RR		3.4892,0.6564,2.524				316,12204				SO:0001589	frameshift_variant	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38349147_38349150delTTTG	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.711_714delTTTG	3.37:g.38349147_38349150delTTTG	ENSP00000273173:p.Tyr237fs	True	False		Somatic	1				SLC22A14_ENST00000448498.1_Frame_Shift_Del_p.YL237fs	p.YL237fs	NM_004803.3	NP_004794.2	WXS	Illumina HiSeq	Phase_I	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	3	802_805	+			237					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Frame_Shift_Del	DEL	ENST00000273173.4	37	c.711_714delTTTG	CCDS2677.1																																																																																				0.564	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	0	NM_004803		3:38349147
ZBTB40	9923	broad.mit.edu	37	1	22828135	22828136	+	Frame_Shift_Ins	INS	-	-	CATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:22828135_22828136insCATC	ENST00000375647.4	+	4	1189_1190	c.982_983insCATC	c.(982-984)ttafs	p.L328fs	ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.L328fs|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	328					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AACAGCACTATTAGACAGGAAG	0.426																																						ENST00000375647.4		NA																	0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(982-984)ttafs		zinc finger and BTB domain containing 40																																				SO:0001589	frameshift_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22828135_22828136insCATC	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	Exception_encountered	1.37:g.22828135_22828136insCATC	ENSP00000364798:p.Leu328fs	False	False		Somatic	0				ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.L328fs|ZBTB40_ENST00000374651.4_Intron	p.L328fs	NM_014870.3	NP_055685.3	WXS	Illumina HiSeq	Phase_I	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	4	1189_1190	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	328					O75066|Q5TFU5|Q8N1R1	Frame_Shift_Ins	INS	ENST00000375647.4	37	c.982_983insCATC	CCDS224.1																																																																																				0.426	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	0	NM_014870		1:22828135
ZBTB40	9923	broad.mit.edu	37	1	22828137	22828138	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:22828137_22828138insTG	ENST00000375647.4	+	4	1191_1192	c.984_985insTG	c.(985-987)gacfs	p.D329fs	ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.D329fs|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	329					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGCACTATTAGACAGGAAGCC	0.431																																						ENST00000375647.4		NA																	0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(985-987)gacfs		zinc finger and BTB domain containing 40																																				SO:0001589	frameshift_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22828137_22828138insTG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	Exception_encountered	1.37:g.22828137_22828138insTG	ENSP00000364798:p.Asp329fs	False	False		Somatic	0				ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.D329fs|ZBTB40_ENST00000374651.4_Intron	p.D329fs	NM_014870.3	NP_055685.3	WXS	Illumina HiSeq	Phase_I	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	4	1191_1192	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	329					O75066|Q5TFU5|Q8N1R1	Frame_Shift_Ins	INS	ENST00000375647.4	37	c.984_985insTG	CCDS224.1																																																																																				0.431	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	0	NM_014870		1:22828137
BBX	56987	broad.mit.edu	37	3	107491556	107491557	+	Frame_Shift_Ins	INS	-	-	TTTTCAATTATATCTGTTTTAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:107491556_107491557insTTTTCAATTATATCTGTTTTAAA	ENST00000325805.8	+	11	1275_1276	c.988_989insTTTTCAATTATATCTGTTTTAAA	c.(988-990)gaafs	p.E330fs	BBX_ENST00000406780.1_Frame_Shift_Ins_p.E330fs|BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Frame_Shift_Ins_p.E330fs|BBX_ENST00000402543.1_Frame_Shift_Ins_p.E330fs			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	330					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGAATTAAAGAATTAGAGAAG	0.327																																						ENST00000402543.1		NA																	0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(988-990)gaafs		bobby sox homolog (Drosophila)																																				SO:0001589	frameshift_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491556_107491557insTTTTCAATTATATCTGTTTTAAA	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	Exception_encountered	3.37:g.107491556_107491557insTTTTCAATTATATCTGTTTTAAA	ENSP00000319974:p.Glu330fs	False	False		Somatic	0				BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Frame_Shift_Ins_p.E330fs|BBX_ENST00000406780.1_Frame_Shift_Ins_p.E330fs|BBX_ENST00000325805.8_Frame_Shift_Ins_p.E330fs	p.E330fs			WXS	Illumina HiSeq	Phase_I	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		12	1407_1408	+			330					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Frame_Shift_Ins	INS	ENST00000325805.8	37	c.988_989insTTTTCAATTATATCTGTTTTAAA	CCDS46881.1																																																																																				0.327	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	0	NM_020235		3:107491556
MORC1	27136	broad.mit.edu	37	3	108746689	108746690	+	In_Frame_Ins	INS	-	-	AAATTGACTAAAGTGGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:108746689_108746690insAAATTGACTAAAGTGGTT	ENST00000483760.1	-	17	1655_1656	c.1612_1613insAACCACTTTAGTCAATTT	c.(1612-1614)agc>aAACCACTTTAGTCAATTTgc	p.538_538S>KPL*SIC	MORC1_ENST00000232603.5_In_Frame_Ins_p.538_538S>KPL*SIC					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATATTGTGCTCATGGTGCCC	0.396																																						ENST00000483760.1		NA																	0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1612-1614)agc>aAACCACTTTAGTCAATTTgc		MORC family CW-type zinc finger 1																																				SO:0001652	inframe_insertion	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108746689_108746690insAAATTGACTAAAGTGGTT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1612_1613insAACCACTTTAGTCAATTT	3.37:g.108746689_108746690insAAATTGACTAAAGTGGTT	ENSP00000417282:p.Ser538delinsLysProLeu*SerIleCys	False	False		Somatic	0				MORC1_ENST00000232603.5_In_Frame_Ins_p.538_538S>KPL*SIC	p.538_538S>KPL*SIC			WXS	Illumina HiSeq	Phase_I	Q86VD1	MORC1_HUMAN			17	1655_1656	-			538						In_Frame_Ins	INS	ENST00000483760.1	37	c.1612_1613insAACCACTTTAGTCAATTT																																																																																					0.396	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1	0			3:108746689
CD80	941	broad.mit.edu	37	3	119263675	119263676	+	Frame_Shift_Ins	INS	-	-	CCCA	rs201443429|rs183378805		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:119263675_119263676insCCCA	ENST00000264246.3	-	3	501_502	c.139_140insTGGG	c.(139-141)acgfs	p.T47fs	CD80_ENST00000478182.1_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383668.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383669.3_Frame_Shift_Ins_p.T47fs	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	47	Ig-like V-type.				cell-cell signaling (GO:0007267)|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)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	ACAGGACAGCGTTGCCACTTCT	0.441																																					Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(139-141)acgfs		CD80 molecule	Abatacept(DB01281)																																			SO:0001589	frameshift_variant	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119263675_119263676insCCCA		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.139_140insTGGG	3.37:g.119263675_119263676insCCCA	ENSP00000264246:p.Thr47fs	False	False		Somatic	0				CD80_ENST00000383668.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383669.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000478182.1_Frame_Shift_Ins_p.T47fs	p.T47fs	NM_005191.3	NP_005182.1	WXS	Illumina HiSeq	Phase_I	P33681	CD80_HUMAN			3	501_502	-			47			Ig-like V-type.		Q5DTA9|Q5DTB0	Frame_Shift_Ins	INS	ENST00000264246.3	37	c.139_140insTGGG	CCDS2989.1																																																																																				0.441	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	0	NM_005191		3:119263675
CD80	941	broad.mit.edu	37	3	119263676	119263677	+	Frame_Shift_Ins	INS	-	-	C	rs183378805		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:119263676_119263677insC	ENST00000264246.3	-	3	500_501	c.138_139insG	c.(136-141)gcaacgfs	p.T47fs	CD80_ENST00000478182.1_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383668.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383669.3_Frame_Shift_Ins_p.T47fs	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	47	Ig-like V-type.				cell-cell signaling (GO:0007267)|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)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	CAGGACAGCGTTGCCACTTCTT	0.441																																					Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(136-141)gcaacgfs		CD80 molecule	Abatacept(DB01281)																																			SO:0001589	frameshift_variant	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119263676_119263677insC		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.138_139insG	3.37:g.119263676_119263677insC	ENSP00000264246:p.Thr47fs	False	False		Somatic	0				CD80_ENST00000383668.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383669.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000478182.1_Frame_Shift_Ins_p.T47fs	p.T47fs	NM_005191.3	NP_005182.1	WXS	Illumina HiSeq	Phase_I	P33681	CD80_HUMAN			3	500_501	-			47			Ig-like V-type.		Q5DTA9|Q5DTB0	Frame_Shift_Ins	INS	ENST00000264246.3	37	c.138_139insG	CCDS2989.1																																																																																				0.441	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	0	NM_005191		3:119263676
ATP2C1	27032	broad.mit.edu	37	3	130686063	130686064	+	Frame_Shift_Ins	INS	-	-	AAAACTATAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:130686063_130686064insAAAACTATAAT	ENST00000510168.1	+	15	1747_1748	c.1197_1198insAAAACTATAAT	c.(1198-1200)gctfs	p.A400fs	ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	400					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTATAACCCAGCTGTTAGCAG	0.342									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1		NA																	0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1198-1200)gctfs		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)																																			SO:0001589	frameshift_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130686063_130686064insAAAACTATAAT	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	Exception_encountered	3.37:g.130686063_130686064insAAAACTATAAT	ENSP00000427461:p.Ala400fs	False	False		Somatic	0				ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs	p.A400fs			WXS	Illumina HiSeq	Phase_I	P98194	AT2C1_HUMAN			15	1747_1748	+			400					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Frame_Shift_Ins	INS	ENST00000510168.1	37	c.1197_1198insAAAACTATAAT	CCDS46914.1																																																																																				0.342	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	0	NM_001001486		3:130686063
PLCH1	23007	broad.mit.edu	37	3	155199717	155199718	+	Frame_Shift_Ins	INS	-	-	AGATGTCAAAACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:155199717_155199718insAGATGTCAAAACT	ENST00000340059.7	-	23	4120_4121	c.4121_4122insAGTTTTGACATCT	c.(4120-4122)tgtfs	p.C1374fs	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Frame_Shift_Ins_p.C1336fs|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.C1336fs|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.C1336fs	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1374					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTATATTCACAGGTTGTTAG	0.426																																						ENST00000460012.1		NA																	0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4006-4008)tgtfs		phospholipase C, eta 1																																				SO:0001589	frameshift_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199717_155199718insAGATGTCAAAACT	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4121_4122insAGTTTTGACATCT	3.37:g.155199717_155199718insAGATGTCAAAACT	ENSP00000345988:p.Cys1374fs	False	False		Somatic	0				PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.C1336fs|PLCH1_ENST00000340059.7_Frame_Shift_Ins_p.C1374fs|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.C1336fs|PLCH1_ENST00000494598.1_Intron	p.C1336fs			WXS	Illumina HiSeq	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4364_4365	-			1374					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Ins	INS	ENST00000340059.7	37	c.4007_4008insAGTTTTGACATCT	CCDS46939.1																																																																																				0.426	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	0	NM_014996		3:155199717
BCHE	590	broad.mit.edu	37	3	165547549	165547550	+	Frame_Shift_Ins	INS	-	-	GAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:165547549_165547550insGAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG	ENST00000264381.3	-	2	1438_1439	c.1272_1273insCTCTTCTTTCCAGAGGTAAACCAAAGACAAATTC	c.(1270-1275)tataatfs	p.N425fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	425					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CATATGAAATTATAATCCCCAA	0.426																																						ENST00000264381.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1270-1275)tataatfs		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)																																			SO:0001589	frameshift_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547549_165547550insGAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1272_1273insCTCTTCTTTCCAGAGGTAAACCAAAGACAAATTC	3.37:g.165547549_165547550insGAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG	ENSP00000264381:p.Asn425fs	False	False		Somatic	0				BCHE_ENST00000540653.1_Intron	p.N425fs	NM_000055.2	NP_000046.1	WXS	Illumina HiSeq	Phase_I	P06276	CHLE_HUMAN			2	1438_1439	-			425					A8K7P8	Frame_Shift_Ins	INS	ENST00000264381.3	37	c.1272_1273insCTCTTCTTTCCAGAGGTAAACCAAAGACAAATTC	CCDS3198.1																																																																																				0.426	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	0			3:165547549
ZBBX	79740	broad.mit.edu	37	3	167090732	167090733	+	De_novo_Start_InFrame	INS	-	-	TTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:167090732_167090733insTTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC	ENST00000392766.2	-	0	297_298				ZBBX_ENST00000455345.2_De_novo_Start_InFrame|ZBBX_ENST00000392764.1_De_novo_Start_InFrame|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_De_novo_Start_InFrame|ZBBX_ENST00000307529.5_De_novo_Start_InFrame	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGATTTGTAAACACTTCTGTA	0.302																																						ENST00000392766.2		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70								zinc finger, B-box domain containing																																						79740					intracellular	zinc ion binding	g.chr3:167090732_167090733insTTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560		3.37:g.167090732_167090733insTTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC		True	False		Somatic	0				ZBBX_ENST00000392767.2_De_novo_Start_InFrame|ZBBX_ENST00000392764.1_De_novo_Start_InFrame|ZBBX_ENST00000307529.5_De_novo_Start_InFrame|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_De_novo_Start_InFrame		NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	WXS	Illumina HiSeq	Phase_I	A8MT70	ZBBX_HUMAN			0	297_298	-			NA					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Translation_Start_Site	INS	ENST00000392766.2	37		CCDS3199.2																																																																																				0.302	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	0	NM_024687		3:167090732
WDR53	348793	broad.mit.edu	37	3	196281320	196281321	+	Frame_Shift_Ins	INS	-	-	ACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:196281320_196281321insACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA	ENST00000332629.5	-	4	1405_1406	c.838_839insTATACAACTAGTTTGATCAGCTACTAATATATTTTGGT	c.(838-840)agtfs	p.S280fs	WDR53_ENST00000433160.1_Frame_Shift_Ins_p.S121fs|WDR53_ENST00000429115.1_Frame_Shift_Ins_p.S119fs	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	280										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTTTGTGGGACTCTTCTGTTTT	0.455																																						ENST00000433160.1		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13						c.(361-363)agtfs		WD repeat domain 53																																				SO:0001589	frameshift_variant	348793							g.chr3:196281320_196281321insACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.838_839insTATACAACTAGTTTGATCAGCTACTAATATATTTTGGT	3.37:g.196281320_196281321insACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA	ENSP00000328079:p.Ser280fs	False	False		Somatic	0				WDR53_ENST00000332629.5_Frame_Shift_Ins_p.S280fs|WDR53_ENST00000429115.1_Frame_Shift_Ins_p.S119fs	p.S121fs			WXS	Illumina HiSeq	Phase_I	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	630_631	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		280					A0MNP1	Frame_Shift_Ins	INS	ENST00000332629.5	37	c.361_362insTATACAACTAGTTTGATCAGCTACTAATATATTTTGGT	CCDS3318.1																																																																																				0.455	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	0	NM_182627		3:196281320
SENP5	205564	broad.mit.edu	37	3	196626633	196626634	+	Frame_Shift_Ins	INS	-	-	AACCTATACACAGCAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:196626633_196626634insAACCTATACACAGCAC	ENST00000323460.5	+	3	1859_1860	c.1610_1611insAACCTATACACAGCAC	c.(1609-1614)ttttctfs	p.FS537fs	SENP5_ENST00000445299.2_Frame_Shift_Ins_p.FS537fs|SENP5_ENST00000419026.1_Frame_Shift_Ins_p.FS27fs	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	537					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AATGAAGACTTTTCTAATAGGT	0.307																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(1609-1614)ttttctfs		SUMO1/sentrin specific peptidase 5																																				SO:0001589	frameshift_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196626633_196626634insAACCTATACACAGCAC	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	Exception_encountered	3.37:g.196626633_196626634insAACCTATACACAGCAC	ENSP00000327197:p.Phe537fs	True	False		Somatic	0				SENP5_ENST00000445299.2_Frame_Shift_Ins_p.FS537fs|SENP5_ENST00000419026.1_Frame_Shift_Ins_p.FS27fs	p.FS537fs	NM_152699.4	NP_689912.2	WXS	Illumina HiSeq	Phase_I	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	3	1859_1860	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		537					B4DY82|Q96SA5	Frame_Shift_Ins	INS	ENST00000323460.5	37	c.1610_1611insAACCTATACACAGCAC	CCDS3322.1																																																																																				0.307	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	0	NM_152699		3:196626633
TLR6	10333	broad.mit.edu	37	4	38829078	38829079	+	In_Frame_Ins	INS	-	-	GATCTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:38829078_38829079insGATCTA	ENST00000381950.1	-	1	2081_2082	c.2016_2017insTAGATC	c.(2014-2019)tgtctt>tgtTAGATCctt	p.672_673CL>C*IL	TLR6_ENST00000436693.2_In_Frame_Ins_p.672_673CL>C*IL			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	672	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTCATGAAGACAAATCTGTA	0.371																																						ENST00000381950.1		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(2014-2019)tgtctt>tgtTAGATCctt		toll-like receptor 6																																				SO:0001652	inframe_insertion	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829078_38829079insGATCTA		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.2016_2017insTAGATC	4.37:g.38829078_38829079insGATCTA	ENSP00000371376:p.Cys672_Leu673ins*Ile	False	False		Somatic	0				TLR6_ENST00000436693.2_In_Frame_Ins_p.672_673CL>C*IL	p.672_673CL>C*IL			WXS	Illumina HiSeq	Phase_I	Q9Y2C9	TLR6_HUMAN			1	2081_2082	-			672			TIR.		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	In_Frame_Ins	INS	ENST00000381950.1	37	c.2016_2017insTAGATC	CCDS3446.1																																																																																				0.371	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1	0			4:38829078
KCTD8	386617	broad.mit.edu	37	4	44177184	44177185	+	In_Frame_Ins	INS	-	-	GGG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:44177184_44177185insGGG	ENST00000360029.3	-	2	1327_1328	c.1044_1045insCCC	c.(1042-1047)agtggg>agtCCCggg	p.348_349SG>SPG		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	348					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CAGGAAGTCCCACTTTCACTTC	0.455										HNSCC(17;0.042)																												ENST00000360029.3		NA																	0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1042-1047)agtggg>agtCCCggg		potassium channel tetramerization domain containing 8																																				SO:0001652	inframe_insertion	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177184_44177185insGGG	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1044_1045insCCC	4.37:g.44177184_44177185insGGG	ENSP00000353129:p.Ser348_Gly349insPro	True	False	HNSCC(17;0.042)	Somatic	0					p.348_349SG>SPG	NM_198353.2	NP_938167.1	WXS	Illumina HiSeq	Phase_I	Q6ZWB6	KCTD8_HUMAN			2	1327_1328	-			348					A2RU39	In_Frame_Ins	INS	ENST00000360029.3	37	c.1044_1045insCCC	CCDS3467.1																																																																																				0.455	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1	0			4:44177184
KCTD8	386617	broad.mit.edu	37	4	44177185	44177186	+	Frame_Shift_Ins	INS	-	-	AACAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:44177185_44177186insAACAAAT	ENST00000360029.3	-	2	1326_1327	c.1043_1044insATTTGTT	c.(1042-1044)agtfs	p.S348fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	348					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGGAAGTCCCACTTTCACTTCC	0.455										HNSCC(17;0.042)																												ENST00000360029.3		NA																	0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1042-1044)agtfs		potassium channel tetramerization domain containing 8																																				SO:0001589	frameshift_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177185_44177186insAACAAAT	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1043_1044insATTTGTT	4.37:g.44177185_44177186insAACAAAT	ENSP00000353129:p.Ser348fs	True	False	HNSCC(17;0.042)	Somatic	0					p.S348fs	NM_198353.2	NP_938167.1	WXS	Illumina HiSeq	Phase_I	Q6ZWB6	KCTD8_HUMAN			2	1326_1327	-			348					A2RU39	Frame_Shift_Ins	INS	ENST00000360029.3	37	c.1043_1044insATTTGTT	CCDS3467.1																																																																																				0.455	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1	0			4:44177185
POLR2B	5431	broad.mit.edu	37	4	57891701	57891702	+	Frame_Shift_Ins	INS	-	-	AAAAATTAAACAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:57891701_57891702insAAAAATTAAACAA	ENST00000381227.1	+	24	3650_3651	c.3237_3238insAAAAATTAAACAA	c.(3238-3240)cgtfs	p.R1080fs	POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1080fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1073fs|POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R1005fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1080					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGGGTAGATCTCGGTAAGAACT	0.386																																						ENST00000381227.1		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(3238-3240)cgtfs		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa																																				SO:0001589	frameshift_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57891701_57891702insAAAAATTAAACAA		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	Exception_encountered	4.37:g.57891701_57891702insAAAAATTAAACAA	ENSP00000370625:p.Arg1080fs	False	False		Somatic	0				POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1080fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1073fs|POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R1005fs	p.R1080fs			WXS	Illumina HiSeq	Phase_I	P30876	RPB2_HUMAN			24	3650_3651	+	Glioma(25;0.08)|all_neural(26;0.181)		1080					A8K1A8|Q8IZ61	Frame_Shift_Ins	INS	ENST00000381227.1	37	c.3237_3238insAAAAATTAAACAA	CCDS3511.1																																																																																				0.386	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	0	NM_000938		4:57891701
SLC4A4	8671	broad.mit.edu	37	4	72338763	72338764	+	Intron	INS	-	-	TTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:72338763_72338764insTTG	ENST00000264485.5	+	14	2020				SLC4A4_ENST00000512686.1_In_Frame_Ins_p.616_617ST>S*T|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGCAAATTTTCAACATGCTGTC	0.431																																						ENST00000512686.1		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1846-1851)tcaaca>tcTTGaaca		solute carrier family 4 (sodium bicarbonate cotransporter), member 4																																				SO:0001627	intron_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338763_72338764insTTG	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1903+76->TTG	4.37:g.72338763_72338764insTTG		False	False		Somatic	0				SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron	p.616_617ST>S*T			WXS	Illumina HiSeq	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	2043_2044	+			0					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	In_Frame_Ins	INS	ENST00000264485.5	37	c.1847_1848insTTG	CCDS43236.1																																																																																				0.431	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	0	NM_003759		4:72338763
SLC4A4	8671	broad.mit.edu	37	4	72338765	72338766	+	Intron	INS	-	-	AG	rs551809701		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:72338765_72338766insAG	ENST00000264485.5	+	14	2020				SLC4A4_ENST00000512686.1_Frame_Shift_Ins_p.T617fs|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CAAATTTTCAACATGCTGTCAT	0.426																																						ENST00000512686.1		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1849-1851)acafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 4																																				SO:0001627	intron_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338765_72338766insAG	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1903+78->AG	4.37:g.72338765_72338766insAG		False	False		Somatic	0				SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron	p.T617fs			WXS	Illumina HiSeq	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	2045_2046	+			0					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Frame_Shift_Ins	INS	ENST00000264485.5	37	c.1849_1850insAG	CCDS43236.1																																																																																				0.426	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	0	NM_003759		4:72338765
ANKRD17	26057	broad.mit.edu	37	4	73987410	73987411	+	In_Frame_Ins	INS	-	-	TAAATCCCTTTATTACAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:73987410_73987411insTAAATCCCTTTATTACAA	ENST00000358602.4	-	19	3674_3675	c.3558_3559insTTGTAATAAAGGGATTTA	c.(3556-3561)cctcta>cctTTGTAATAAAGGGATTTActa	p.1187_1188ins**RDLL	ANKRD17_ENST00000330838.6_In_Frame_Ins_p.936_937ins**RDLL|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_In_Frame_Ins_p.1074_1075ins**RDLL	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1187					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCAGACTTAGAGGTGTGTAAT	0.371																																						ENST00000358602.4		NA																	0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(3556-3561)cctcta>cctTTGTAATAAAGGGATTTActa		ankyrin repeat domain 17																																				SO:0001652	inframe_insertion	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73987410_73987411insTAAATCCCTTTATTACAA	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3558_3559insTTGTAATAAAGGGATTTA	4.37:g.73987410_73987411insTAAATCCCTTTATTACAA	ENSP00000351416:p.Leu1187_Ser1188ins**ArgAspLeuLeu	False	False		Somatic	0				ANKRD17_ENST00000330838.6_In_Frame_Ins_p.936_937ins**RDLL|ANKRD17_ENST00000509867.2_In_Frame_Ins_p.1074_1075ins**RDLL|ANKRD17_ENST00000514252.1_5'UTR	p.1187_1188ins**RDLL	NM_032217.3	NP_115593.3	WXS	Illumina HiSeq	Phase_I	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		19	3674_3675	-	Breast(15;0.000295)		1187					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	In_Frame_Ins	INS	ENST00000358602.4	37	c.3558_3559insTTGTAATAAAGGGATTTA	CCDS34004.1																																																																																				0.371	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	0	NM_032217		4:73987410
SLC10A6	345274	broad.mit.edu	37	4	87754576	87754577	+	Splice_Site	INS	-	-	AATAGCTGTTCTTAATTATATAACTCTTTATGCAG	rs200680340		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:87754576_87754577insAATAGCTGTTCTTAATTATATAACTCTTTATGCAG	ENST00000273905.6	-	2	525_526	c.378_379insCTGCATAAAGAGTTATATAATTAAGAACAGCTATT	c.(376-381)agcatc>agcCTGCATAAAGAGTTATATAATTAAGAACAGCTATTatc	p.I127fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	127					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTCATACTGATGCTGAAAGTAA	0.436																																						ENST00000273905.6		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(376-381)agcatc>agcCTGCATAAAGAGTTATATAATTAAGAACAGCTATTatc		solute carrier family 10 (sodium/bile acid cotransporter), member 6																																				SO:0001630	splice_region_variant	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87754576_87754577insAATAGCTGTTCTTAATTATATAACTCTTTATGCAG	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.378-1->CTGCATAAAGAGTTATATAATTAAGAACAGCTATT	4.37:g.87754576_87754577insAATAGCTGTTCTTAATTATATAACTCTTTATGCAG		False	False		Somatic	0				SLC10A6_ENST00000505535.1_5'UTR	p.I127fs	NM_197965.2	NP_932069.1	WXS	Illumina HiSeq	Phase_I	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	2	525_526	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	127					Q70EX7	Splice_Site	INS	ENST00000273905.6	37	c.378_379insCTGCATAAAGAGTTATATAATTAAGAACAGCTATT	CCDS3614.1																																																																																				0.436	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	0	NM_197965	Frame_Shift_Ins	4:87754576
UNC5C	8633	broad.mit.edu	37	4	96127941	96127942	+	Frame_Shift_Ins	INS	-	-	CAGATAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:96127941_96127942insCAGATAA	ENST00000453304.1	-	11	2087_2088	c.1739_1740insTTATCTG	c.(1738-1740)cccfs	p.-580fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)						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)		AGTCATCCATGGGTGGCCTAGG	0.53																																						ENST00000453304.1		NA																	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.(1738-1740)cccfs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96127941_96127942insCAGATAA	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.1739_1740insTTATCTG	4.37:g.96127941_96127942insCAGATAA	ENSP00000406022:p.Pro580fs	True	False		Somatic	0					p.-580fs	NM_003728.3	NP_003719.3	WXS	Illumina HiSeq	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	11	2087_2088	-		Hepatocellular(203;0.114)	NA					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1739_1740insTTATCTG	CCDS3643.1																																																																																				0.530	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	0	NM_003728		4:96127941
RAP1GDS1	5910	broad.mit.edu	37	4	99342510	99342511	+	In_Frame_Ins	INS	-	-	AATCAGTTGAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:99342510_99342511insAATCAGTTGAAA	ENST00000408927.3	+	12	1518_1519	c.1405_1406insAATCAGTTGAAA	c.(1405-1407)ctg>cAATCAGTTGAAAtg	p.469_469L>QSVEM	RAP1GDS1_ENST00000339360.5_In_Frame_Ins_p.470_470L>QSVEM|RAP1GDS1_ENST00000408900.3_In_Frame_Ins_p.420_420L>QSVEM|RAP1GDS1_ENST00000264572.7_In_Frame_Ins_p.378_378L>QSVEM|RAP1GDS1_ENST00000453712.2_In_Frame_Ins_p.469_469L>QSVEM|RAP1GDS1_ENST00000380158.4_In_Frame_Ins_p.421_421L>QSVEM	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	469					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTCAAACAGACTGCTGTCTGCC	0.431			T	NUP98	T-ALL																																	ENST00000408927.3		NA		Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(1405-1407)ctg>cAATCAGTTGAAAtg		RAP1, GTP-GDP dissociation stimulator 1																																				SO:0001652	inframe_insertion	5910						binding|GTPase activator activity	g.chr4:99342510_99342511insAATCAGTTGAAA		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	Exception_encountered	4.37:g.99342510_99342511insAATCAGTTGAAA	ENSP00000386153:p.Leu469delinsGlnSerValGluMet	False	False		Somatic	0				RAP1GDS1_ENST00000264572.7_In_Frame_Ins_p.378_378L>QSVEM|RAP1GDS1_ENST00000408900.3_In_Frame_Ins_p.420_420L>QSVEM|RAP1GDS1_ENST00000380158.4_In_Frame_Ins_p.421_421L>QSVEM|RAP1GDS1_ENST00000453712.2_In_Frame_Ins_p.469_469L>QSVEM|RAP1GDS1_ENST00000339360.5_In_Frame_Ins_p.470_470L>QSVEM	p.469_469L>QSVEM	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	WXS	Illumina HiSeq	Phase_I	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	12	1518_1519	+			469					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	In_Frame_Ins	INS	ENST00000408927.3	37	c.1405_1406insAATCAGTTGAAA	CCDS43253.1																																																																																				0.431	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	0	NM_001100426		4:99342510
SLC39A8	64116	broad.mit.edu	37	4	103236987	103236988	+	Splice_Site	INS	-	-	AGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:103236987_103236988insAGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT	ENST00000394833.2	-	2	696	c.220_220insAAAAAATGCTTCTAATATACCTTCTGAATGACTTGGTCT	c.(220-222)tgt>AAAAAATGCTTCTAATATACCTTCTGAATGACTTGGTCTtgt	p.73_74insKKCF*YTF*MTWS	SLC39A8_ENST00000424970.2_Splice_Site_p.73_74insKKCF*YTF*MTWS|SLC39A8_ENST00000510255.1_De_novo_Start_InFrame|SLC39A8_ENST00000356736.4_Splice_Site_p.73_74insKKCF*YTF*MTWS	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	73					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GCAGTTAAACACTGAAATAGAA	0.351																																						ENST00000510255.1		NA																	0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9								solute carrier family 39 (zinc transporter), member 8																																				SO:0001630	splice_region_variant	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103236987_103236988insAGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.220-1->AAAAAATGCTTCTAATATACCTTCTGAATGACTTGGTCT	4.37:g.103236987_103236988insAGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT		False	False		Somatic	0				SLC39A8_ENST00000394833.2_Splice_Site_p.73_74insKKCF*YTF*MTWS|SLC39A8_ENST00000356736.4_Splice_Site_p.73_74insKKCF*YTF*MTWS|SLC39A8_ENST00000424970.2_Splice_Site_p.73_74insKKCF*YTF*MTWS				WXS	Illumina HiSeq	Phase_I	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	0	147	-		Hepatocellular(203;0.217)	NA					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Translation_Start_Site	INS	ENST00000394833.2	37		CCDS3656.1																																																																																				0.351	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	0	NM_022154	In_Frame_Ins	4:103236987
KIAA1109	84162	broad.mit.edu	37	4	123140719	123140733	+	Splice_Site	DEL	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	-	rs374484628		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	-	-	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:123140719_123140733delTGTTGTAAGTGTTTA	ENST00000264501.4	+	21	2845_2848	c.2472_2475delTGTTGTAAGTGTTTA	c.(2470-2475)cctgtt>cc	p.PV824del	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Splice_Site_p.PV824del|KIAA1109_ENST00000455637.1_Splice_Site_p.PV824del			Q2LD37	K1109_HUMAN	KIAA1109	824					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCGTCTTCCTGTTGTAAGTGTTTACACATGAAAG	0.367																																						ENST00000264501.4		NA																	0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2470-2475)cctgtt>cc		KIAA1109																																				SO:0001630	splice_region_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140719_123140733delTGTTGTAAGTGTTTA	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2475+1TGTTGTAAGTGTTTA>-	4.37:g.123140719_123140733delTGTTGTAAGTGTTTA		False	False		Somatic	1				KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Splice_Site_p.PV824del|KIAA1109_ENST00000455637.1_Splice_Site_p.PV824del	p.PV824del			WXS	Illumina HiSeq	Phase_I	Q2LD37	K1109_HUMAN			21	2845_2848	+			824					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Splice_Site	DEL	ENST00000264501.4	37	c.2472_2475delTGTTGTAAGTGTTTA	CCDS43267.1																																																																																				0.367	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	0	NM_020797	In_Frame_Del	4:123140719
INTU	27152	broad.mit.edu	37	4	128564887	128564888	+	Frame_Shift_Ins	INS	-	-	AGGTATGTCATCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:128564887_128564888insAGGTATGTCATCCT	ENST00000335251.6	+	2	461_462	c.358_359insAGGTATGTCATCCT	c.(358-360)aggfs	p.R120fs	INTU_ENST00000296461.5_Frame_Shift_Ins_p.R120fs	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	120					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AATTTTAAGAAGGAAAAGACTT	0.351																																						ENST00000335251.5		NA																	0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(358-360)aggfs		inturned planar cell polarity protein																																				SO:0001589	frameshift_variant	27152							g.chr4:128564887_128564888insAGGTATGTCATCCT	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	Exception_encountered	4.37:g.128564887_128564888insAGGTATGTCATCCT	ENSP00000334003:p.Arg120fs	False	False		Somatic	0				INTU_ENST00000296461.5_Frame_Shift_Ins_p.R120fs	p.R120fs	NM_015693.3	NP_056508.2	WXS	Illumina HiSeq	Phase_I	Q9ULD6	PDZD6_HUMAN			2	461_462	+			120					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Ins	INS	ENST00000335251.6	37	c.358_359insAGGTATGTCATCCT	CCDS34061.1																																																																																				0.351	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	0	XM_371707		4:128564887
ELMOD2	255520	broad.mit.edu	37	4	141464739	141464740	+	Splice_Site	INS	-	-	CAGCTAGCCAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:141464739_141464740insCAGCTAGCCAAA	ENST00000323570.3	+	8	867_868	c.735_736insCAGCTAGCCAAA	c.(736-738)tgt>CAGCTAGCCAAAtgt	p.245_246insQLAK		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	245	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					ATCAGTTTTACTGTGAGTATTA	0.312																																						ENST00000323570.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(736-738)tgt>CAGCTAGCCAAAtgt		ELMO/CED-12 domain containing 2																																				SO:0001630	splice_region_variant	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141464739_141464740insCAGCTAGCCAAA	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.736+1->CAGCTAGCCAAA	4.37:g.141464739_141464740insCAGCTAGCCAAA		False	False		Somatic	0					p.245_246insQLAK	NM_153702.3	NP_714913.1	WXS	Illumina HiSeq	Phase_I	Q8IZ81	ELMD2_HUMAN			8	867_868	+	all_hematologic(180;0.162)		245			ELMO.		B2R712|D3DNZ0	Splice_Site	INS	ENST00000323570.3	37	c.735_736insCAGCTAGCCAAA	CCDS3752.1																																																																																				0.312	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	0	NM_153702	In_Frame_Ins	4:141464739
TLR2	7097	broad.mit.edu	37	4	154625025	154625026	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:154625025_154625026insCA	ENST00000260010.6	+	1	2374_2375	c.966_967insCA	c.(967-969)tacfs	p.Y323fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	323					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TTCCAAGGTTTTACTTATTTTA	0.332																																						ENST00000260010.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(967-969)tacfs		toll-like receptor 2																																				SO:0001589	frameshift_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625025_154625026insCA	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		Exception_encountered	4.37:g.154625025_154625026insCA	ENSP00000260010:p.Tyr323fs	True	False		Somatic	0					p.Y323fs	NM_003264.3	NP_003255.2	WXS	Illumina HiSeq	Phase_I	O60603	TLR2_HUMAN			1	2374_2375	+	all_hematologic(180;0.093)	Renal(120;0.117)	323					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Frame_Shift_Ins	INS	ENST00000260010.6	37	c.966_967insCA	CCDS3784.1																																																																																				0.332	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1	0			4:154625025
TLR2	7097	broad.mit.edu	37	4	154625026	154625027	+	In_Frame_Ins	INS	-	-	AACCTGAAACAA	rs574642301		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:154625026_154625027insAACCTGAAACAA	ENST00000260010.6	+	1	2375_2376	c.967_968insAACCTGAAACAA	c.(967-969)tac>tAACCTGAAACAAac	p.323_323Y>*PETN		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	323					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCCAAGGTTTTACTTATTTTAT	0.332																																						ENST00000260010.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(967-969)tac>tAACCTGAAACAAac		toll-like receptor 2																																				SO:0001652	inframe_insertion	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625026_154625027insAACCTGAAACAA	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		Exception_encountered	4.37:g.154625026_154625027insAACCTGAAACAA	ENSP00000260010:p.Tyr323delins*ProGluThrAsn	True	False		Somatic	0					p.323_323Y>*PETN	NM_003264.3	NP_003255.2	WXS	Illumina HiSeq	Phase_I	O60603	TLR2_HUMAN			1	2375_2376	+	all_hematologic(180;0.093)	Renal(120;0.117)	323					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	In_Frame_Ins	INS	ENST00000260010.6	37	c.967_968insAACCTGAAACAA	CCDS3784.1																																																																																				0.332	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1	0			4:154625026
FAT1	2195	broad.mit.edu	37	4	187542013	187542014	+	Frame_Shift_Ins	INS	-	-	AAGAAAGTCAC	rs182019330		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:187542013_187542014insAAGAAAGTCAC	ENST00000441802.2	-	10	5935_5936	c.5726_5727insGTGACTTTCTT	c.(5725-5727)agtfs	p.-1908fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						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						GTGAGAATGCACTTGAATCAGC	0.426										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2		NA																	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.(5725-5727)agtfs		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.chr4:187542013_187542014insAAGAAAGTCAC	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.5726_5727insGTGACTTTCTT	4.37:g.187542013_187542014insAAGAAAGTCAC	ENSP00000406229:p.Ser1908fs	False	False	HNSCC(5;0.00058)	Somatic	0					p.-1908fs	NM_005245.3	NP_005236.2	WXS	Illumina HiSeq	Phase_I	Q14517	FAT1_HUMAN			10	5935_5936	-			NA						Frame_Shift_Ins	INS	ENST00000441802.2	37	c.5726_5727insGTGACTTTCTT	CCDS47177.1																																																																																				0.426	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	0	NM_005245		4:187542013
ICE1	23379	broad.mit.edu	37	5	5463215	5463216	+	In_Frame_Ins	INS	-	-	TTCATTTCTTTACTTAGGGTTCCTTTACTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:5463215_5463216insTTCATTTCTTTACTTAGGGTTCCTTTACTA	ENST00000296564.7	+	13	3990_3991	c.3768_3769insTTCATTTCTTTACTTAGGGTTCCTTTACTA	c.(3769-3771)gaa>TTCATTTCTTTACTTAGGGTTCCTTTACTAgaa	p.1256_1257insFISLLRVPLL		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1256					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTGTTCTTTGGAAACTCTGTC	0.381																																						ENST00000296564.7		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(3769-3771)gaa>TTCATTTCTTTACTTAGGGTTCCTTTACTAgaa		KIAA0947																																				SO:0001652	inframe_insertion	23379							g.chr5:5463215_5463216insTTCATTTCTTTACTTAGGGTTCCTTTACTA																												Exception_encountered	5.37:g.5463215_5463216insTTCATTTCTTTACTTAGGGTTCCTTTACTA	ENSP00000296564:p.Leu1256_Glu1257insPheIleSerLeuLeuArgValProLeuLeu	True	False		Somatic	0					p.1256_1257insFISLLRVPLL	NM_015325.2	NP_056140.1	WXS	Illumina HiSeq	Phase_I	Q9Y2F5	K0947_HUMAN			13	3990_3991	+			1256					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	In_Frame_Ins	INS	ENST00000296564.7	37	c.3768_3769insTTCATTTCTTTACTTAGGGTTCCTTTACTA	CCDS47187.1																																																																																				0.381	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	0			5:5463215
DNAH5	1767	broad.mit.edu	37	5	13762877	13762878	+	Frame_Shift_Ins	INS	-	-	TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:13762877_13762878insTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT	ENST00000265104.4	-	60	10338_10339	c.10234_10235insATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA	c.(10234-10236)gctfs	p.A3412fs	DNAH5_ENST00000504001.3_De_novo_Start_OutOfFrame	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3412	Stalk. {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)					GGAAGCCATAGCTTTCGTCCAG	0.46									Kartagener syndrome																													ENST00000504001.3		NA																	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								dynein, axonemal, heavy chain 5																																				SO:0001589	frameshift_variant	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.chr5:13762877_13762878insTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT	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.10234_10235insATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA	5.37:g.13762877_13762878insTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT	ENSP00000265104:p.Ala3412fs	True	False		Somatic	0				DNAH5_ENST00000265104.4_Frame_Shift_Ins_p.A3412fs				WXS	Illumina HiSeq	Phase_I	Q8TE73	DYH5_HUMAN			0	741_742	-	Lung NSC(4;0.00476)		NA					Q92860|Q96L74|Q9H5S7|Q9HCG9	Translation_Start_Site	INS	ENST00000265104.4	37		CCDS3882.1																																																																																				0.460	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	NM_001369		5:13762877
PRDM9	56979	broad.mit.edu	37	5	23524634	23524635	+	Frame_Shift_Ins	INS	-	-	TTCCCAGTATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:23524634_23524635insTTCCCAGTATC	ENST00000296682.3	+	10	1324_1325	c.1142_1143insTTCCCAGTATC	c.(1141-1146)agagaafs	p.RE381fs		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	381				Missing (in Ref. 4; AAF87242). {ECO:0000305}.	meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGGCAGGGAGAGGTAGGCATC	0.446										HNSCC(3;0.000094)																												ENST00000296682.3		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1141-1146)agagaafs		PR domain containing 9																																				SO:0001589	frameshift_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524634_23524635insTTCCCAGTATC	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	Exception_encountered	5.37:g.23524634_23524635insTTCCCAGTATC	ENSP00000296682:p.Arg381fs	False	False	HNSCC(3;0.000094)	Somatic	0					p.RE381fs	NM_020227.2	NP_064612.2	WXS	Illumina HiSeq	Phase_I	Q9NQV7	PRDM9_HUMAN			10	1324_1325	+			381	Missing (in Ref. 4; AAF87242).				B4DX22|Q27Q50	Frame_Shift_Ins	INS	ENST00000296682.3	37	c.1142_1143insTTCCCAGTATC	CCDS43307.1																																																																																				0.446	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	0	NM_020227		5:23524634
FYB	2533	broad.mit.edu	37	5	39153670	39153671	+	Frame_Shift_Ins	INS	-	-	CAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:39153670_39153671insCAAAT	ENST00000351578.6	-	3	1361_1362	c.1171_1172insATTTG	c.(1171-1173)tccfs	p.S391fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.S391fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.S391fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.S401fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.S391fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	391	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGTGGCAGGGAAGTTGTTGAG	0.47																																						ENST00000351578.6		NA																	0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(1171-1173)tccfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39153670_39153671insCAAAT	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1171_1172insATTTG	5.37:g.39153670_39153671insCAAAT	ENSP00000316460:p.Ser391fs	True	False		Somatic	0				FYB_ENST00000505428.1_Frame_Shift_Ins_p.S391fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.S401fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.S391fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.S391fs	p.S391fs	NM_199335.3	NP_955367.1	WXS	Illumina HiSeq	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		3	1361_1362	-	all_lung(31;0.000343)		391			Interaction with SKAP1.		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.1171_1172insATTTG	CCDS47200.1																																																																																				0.470	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	0	NM_001465		5:39153670
PRKAA1	5562	broad.mit.edu	37	5	40769602	40769603	+	Frame_Shift_Ins	INS	-	-	TTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:40769602_40769603insTTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT	ENST00000397128.2	-	5	519_520	c.511_512insATTAGAATTAAATATGACACTATAGACTAACAAAATCTAGGAGAAAAAGACAA	c.(511-513)cttfs	p.L171fs	PRKAA1_ENST00000354209.3_Frame_Shift_Ins_p.L186fs|PRKAA1_ENST00000296800.4_Frame_Shift_Ins_p.L162fs	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[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)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CATGTTTGAAAGACCTGAAAGT	0.332																																						ENST00000296800.4		NA																	0				breast(1)	1						c.(484-486)cttfs		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)																																			SO:0001589	frameshift_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40769602_40769603insTTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.511_512insATTAGAATTAAATATGACACTATAGACTAACAAAATCTAGGAGAAAAAGACAA	5.37:g.40769602_40769603insTTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT	ENSP00000380317:p.Leu171fs	True	False		Somatic	0				PRKAA1_ENST00000397128.2_Frame_Shift_Ins_p.L171fs|PRKAA1_ENST00000354209.3_Frame_Shift_Ins_p.L186fs	p.L162fs			WXS	Illumina HiSeq	Phase_I	Q13131	AAPK1_HUMAN			5	495_496	-			171			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Frame_Shift_Ins	INS	ENST00000397128.2	37	c.484_485insATTAGAATTAAATATGACACTATAGACTAACAAAATCTAGGAGAAAAAGACAA	CCDS3932.2																																																																																				0.332	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	0	NM_006251		5:40769602
DDX4	54514	broad.mit.edu	37	5	55075881	55075882	+	Frame_Shift_Ins	INS	-	-	AAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:55075881_55075882insAAAT	ENST00000505374.1	+	8	576_577	c.484_485insAAAT	c.(484-486)ctafs	p.L162fs	DDX4_ENST00000514278.2_Frame_Shift_Ins_p.L142fs|DDX4_ENST00000511853.1_Intron|RNA5SP183_ENST00000362452.1_RNA|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000354991.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	162	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGGATTTGGTCTAGGAAGTCCA	0.371																																						ENST00000505374.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(484-486)ctafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4																																				SO:0001589	frameshift_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55075881_55075882insAAAT	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	Exception_encountered	5.37:g.55075881_55075882insAAAT	ENSP00000424838:p.Leu162fs	False	False		Somatic	0				DDX4_ENST00000511853.1_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Frame_Shift_Ins_p.L142fs|DDX4_ENST00000353507.5_Intron	p.L162fs	NM_024415.2	NP_077726.1	WXS	Illumina HiSeq	Phase_I	Q9NQI0	DDX4_HUMAN			8	576_577	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	162			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Frame_Shift_Ins	INS	ENST00000505374.1	37	c.484_485insAAAT	CCDS3969.1																																																																																				0.371	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	0	NM_024415		5:55075881
GPBP1	65056	broad.mit.edu	37	5	56527147	56527149	+	Splice_Site	DEL	TTG	TTG	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTG	TTG	-	-	TTG	TTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:56527147_56527149delTTG	ENST00000506184.2	+	5	1515_1516	c.410_411delTTG	c.(409-411)ttt>t	p.F137del	GPBP1_ENST00000454432.2_Splice_Site_p.F137del|GPBP1_ENST00000511209.1_Splice_Site_p.F144del|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000264779.6_Splice_Site_p.F144del|GPBP1_ENST00000538707.1_Splice_Site_p.F144del|GPBP1_ENST00000424459.3_Splice_Site_p.F137del			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	137					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GCTGAGGATTTTGTAAGTTTTTT	0.399																																						ENST00000424459.3		NA																	0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(409-411)ttt>t		GC-rich promoter binding protein 1																																				SO:0001630	splice_region_variant	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56527147_56527149delTTG		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.411+1TTG>-	5.37:g.56527147_56527149delTTG		True	False		Somatic	1				GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000264779.6_Splice_Site_p.F144del|GPBP1_ENST00000454432.2_Splice_Site_p.F137del|GPBP1_ENST00000538707.1_Splice_Site_p.F144del|GPBP1_ENST00000511209.1_Splice_Site_p.F144del|GPBP1_ENST00000506184.2_Splice_Site_p.F137del	p.F137del	NM_022913.3	NP_075064.1	WXS	Illumina HiSeq	Phase_I	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	5	1684_1685	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	137					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Splice_Site	DEL	ENST00000506184.2	37	c.410_411delTTG	CCDS34162.1																																																																																				0.399	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	0	NM_022913	In_Frame_Del	5:56527147
RAD17	5884	broad.mit.edu	37	5	68669819	68669820	+	Frame_Shift_Ins	INS	-	-	ATGTAAATATAATCACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:68669819_68669820insATGTAAATATAATCACA	ENST00000509734.1	+	4	883_884	c.205_206insATGTAAATATAATCACA	c.(205-207)ctafs	p.L69fs	RAD17_ENST00000521422.1_De_novo_Start_OutOfFrame|RAD17_ENST00000354868.5_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000354312.3_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000358030.2_De_novo_Start_OutOfFrame|RAD17_ENST00000305138.4_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000345306.6_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000380774.3_Frame_Shift_Ins_p.L69fs|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Frame_Shift_Ins_p.L58fs			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	69					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AAGAGGAAATCTATCTTCCTTA	0.351								Other conserved DNA damage response genes																														ENST00000521422.1		NA																	0					NA							Other conserved DNA damage response genes	RAD17 homolog (S. pombe)																																				SO:0001589	frameshift_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68669819_68669820insATGTAAATATAATCACA	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	Exception_encountered	5.37:g.68669819_68669820insATGTAAATATAATCACA	ENSP00000426191:p.Leu69fs	True	False		Somatic	0				RAD17_ENST00000504177.1_Intron|RAD17_ENST00000509734.1_Frame_Shift_Ins_p.L69fs|RAD17_ENST00000358030.2_De_novo_Start_OutOfFrame|RAD17_ENST00000354868.5_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000361732.2_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000345306.6_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000354312.3_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000380774.3_Frame_Shift_Ins_p.L69fs|RAD17_ENST00000305138.4_Frame_Shift_Ins_p.L58fs				WXS	Illumina HiSeq	Phase_I	O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	0	414_415	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	NA					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Translation_Start_Site	INS	ENST00000509734.1	37		CCDS4003.1																																																																																				0.351	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	0	NM_133344		5:68669819
BDP1	55814	broad.mit.edu	37	5	70805871	70805872	+	In_Frame_Ins	INS	-	-	TCTATTTCCTCAGTGGCATCAATCACCTCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70805871_70805872insTCTATTTCCTCAGTGGCATCAATCACCTCT	ENST00000358731.4	+	17	3215_3216	c.2952_2953insTCTATTTCCTCAGTGGCATCAATCACCTCT	c.(2953-2955)gaa>TCTATTTCCTCAGTGGCATCAATCACCTCTgaa	p.984_985insSISSVASITS	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	984	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAAAAATTTGGAAGAAACTGG	0.446																																						ENST00000358731.4		NA																	0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2953-2955)gaa>TCTATTTCCTCAGTGGCATCAATCACCTCTgaa		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB																																				SO:0001652	inframe_insertion	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805871_70805872insTCTATTTCCTCAGTGGCATCAATCACCTCT	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	Exception_encountered	5.37:g.70805871_70805872insTCTATTTCCTCAGTGGCATCAATCACCTCT	ENSP00000351575:p.Leu984_Glu985insSerIleSerSerValAlaSerIleThrSer	False	False		Somatic	0				BDP1_ENST00000380675.2_5'UTR	p.984_985insSISSVASITS	NM_018429.2	NP_060899.2	WXS	Illumina HiSeq	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3215_3216	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	984			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	In_Frame_Ins	INS	ENST00000358731.4	37	c.2952_2953insTCTATTTCCTCAGTGGCATCAATCACCTCT	CCDS43328.1																																																																																				0.446	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	0	NM_018429		5:70805871
BDP1	55814	broad.mit.edu	37	5	70806578	70806579	+	In_Frame_Ins	INS	-	-	CTCCATTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806578_70806579insCTCCATTTC	ENST00000358731.4	+	17	3922_3923	c.3659_3660insCTCCATTTC	c.(3658-3663)gtaggt>gtCTCCATTTCaggt	p.1220_1221VG>VSISG	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1220	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTCAAGCCTGTAGGTAAAATGG	0.416																																						ENST00000358731.4		NA																	0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3658-3663)gtaggt>gtCTCCATTTCaggt		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB																																				SO:0001652	inframe_insertion	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806578_70806579insCTCCATTTC	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	Exception_encountered	5.37:g.70806578_70806579insCTCCATTTC	ENSP00000351575:p.Val1220_Gly1221insSerIleSer	False	False		Somatic	0				BDP1_ENST00000380675.2_5'UTR	p.1220_1221VG>VSISG	NM_018429.2	NP_060899.2	WXS	Illumina HiSeq	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3922_3923	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1220			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	In_Frame_Ins	INS	ENST00000358731.4	37	c.3659_3660insCTCCATTTC	CCDS43328.1																																																																																				0.416	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	0	NM_018429		5:70806578
BDP1	55814	broad.mit.edu	37	5	70806873	70806874	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806873_70806874insTG	ENST00000358731.4	+	17	4217_4218	c.3954_3955insTG	c.(3955-3957)aggfs	p.R1319fs	BDP1_ENST00000380675.2_De_novo_Start_OutOfFrame	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1319	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACATTTCTCCAAGGGAAAACGA	0.416																																						ENST00000358731.4		NA																	0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3955-3957)aggfs		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB																																				SO:0001589	frameshift_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806873_70806874insTG	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	Exception_encountered	5.37:g.70806873_70806874insTG	ENSP00000351575:p.Arg1319fs	True	False		Somatic	0				BDP1_ENST00000380675.2_De_novo_Start_OutOfFrame	p.R1319fs	NM_018429.2	NP_060899.2	WXS	Illumina HiSeq	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	4217_4218	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1319			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Ins	INS	ENST00000358731.4	37	c.3954_3955insTG	CCDS43328.1																																																																																				0.416	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	0	NM_018429		5:70806873
BDP1	55814	broad.mit.edu	37	5	70806874	70806875	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806874_70806875insT	ENST00000358731.4	+	17	4218_4219	c.3955_3956insT	c.(3955-3957)aggfs	p.R1319fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1319	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CATTTCTCCAAGGGAAAACGAG	0.411																																						ENST00000358731.4		NA																	0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3955-3957)aggfs		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB																																				SO:0001589	frameshift_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806874_70806875insT	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	Exception_encountered	5.37:g.70806874_70806875insT	ENSP00000351575:p.Arg1319fs	True	False		Somatic	0				BDP1_ENST00000380675.2_5'UTR	p.R1319fs	NM_018429.2	NP_060899.2	WXS	Illumina HiSeq	Phase_I	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	4218_4219	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1319			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Ins	INS	ENST00000358731.4	37	c.3955_3956insT	CCDS43328.1																																																																																				0.411	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	0	NM_018429		5:70806874
WDR41	55255	broad.mit.edu	37	5	76785385	76785386	+	In_Frame_Ins	INS	-	-	GGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:76785385_76785386insGGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT	ENST00000296679.4	-	2	438_439	c.63_64insATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCC	c.(61-66)ttacag>ttaATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCCcag	p.21_22LQ>LILKVFNIKFPKTSSQ	WDR41_ENST00000507029.1_Intron|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	21						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CCTATTGTCTGTAAAGGAGATT	0.317																																						ENST00000296679.4		NA																	0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(61-66)ttacag>ttaATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCCcag		WD repeat domain 41																																				SO:0001652	inframe_insertion	55255							g.chr5:76785385_76785386insGGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.63_64insATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCC	5.37:g.76785385_76785386insGGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT	ENSP00000296679:p.Leu21_Gln22insIleLeuLysValPheAsnIleLysPheProLysThrSerSer	True	False		Somatic	0				WDR41_ENST00000507029.1_Intron|WDR41_ENST00000414719.2_5'UTR	p.21_22LQ>LILKVFNIKFPKTSSQ	NM_018268.2	NP_060738.2	WXS	Illumina HiSeq	Phase_I	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	2	438_439	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	21					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	In_Frame_Ins	INS	ENST00000296679.4	37	c.63_64insATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCC	CCDS4038.1																																																																																				0.317	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	0	NM_018268		5:76785385
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
MSH3	4437	broad.mit.edu	37	5	80064776	80064777	+	In_Frame_Ins	INS	-	-	GTGGTTCCAATTGTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:80064776_80064777insGTGGTTCCAATTGTC	ENST00000265081.6	+	15	2287_2288	c.2207_2208insGTGGTTCCAATTGTC	c.(2206-2211)atacta>atGTGGTTCCAATTGTCacta	p.736_736I>MWFQLS		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	736					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATACGAAAAATACTAAAAAATC	0.322								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2206-2211)atacta>atGTGGTTCCAATTGTCacta	Mismatch excision repair (MMR)	mutS homolog 3																																				SO:0001652	inframe_insertion	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80064776_80064777insGTGGTTCCAATTGTC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	Exception_encountered	5.37:g.80064776_80064777insGTGGTTCCAATTGTC	ENSP00000265081:p.Ile736delinsMetTrpPheGlnLeuSer	False	False		Somatic	0					p.736_736I>MWFQLS	NM_002439.4	NP_002430.3	WXS	Illumina HiSeq	Phase_I	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	15	2287_2288	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	736					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Ins	INS	ENST00000265081.6	37	c.2207_2208insGTGGTTCCAATTGTC	CCDS34195.1																																																																																				0.322	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	0	NM_002439		5:80064776
GPR98	84059	broad.mit.edu	37	5	89933756	89933757	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:89933756_89933757insT	ENST00000405460.2	+	11	2327_2328	c.2231_2232insT	c.(2230-2235)tctctafs	p.L745fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	745	Calx-beta 5. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	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)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAACACTTTCTCTAGACAGGT	0.297																																						ENST00000405460.2		NA																	0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2230-2235)tctctafs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89933756_89933757insT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2232dupT	5.37:g.89933757_89933757dupT	ENSP00000384582:p.Leu745fs	False	False		Somatic	1					p.L745fs	NM_032119.3	NP_115495.3	WXS	Illumina HiSeq	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	11	2327_2328	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	745			Calx-beta 5.		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.2231_2232insT	CCDS47246.1																																																																																				0.297	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	NM_032119		5:89933756
GPR98	84059	broad.mit.edu	37	5	89933758	89933759	+	Frame_Shift_Ins	INS	-	-	TAAAATA	rs373724664		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:89933758_89933759insTAAAATA	ENST00000405460.2	+	11	2329_2330	c.2233_2234insTAAAATA	c.(2233-2235)ctafs	p.-745fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	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)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACACTTTCTCTAGACAGGTAA	0.297																																						ENST00000405460.2		NA																	0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2233-2235)ctafs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89933758_89933759insTAAAATA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	Exception_encountered	5.37:g.89933758_89933759insTAAAATA	ENSP00000384582:p.Leu745fs	False	False		Somatic	0					p.-745fs	NM_032119.3	NP_115495.3	WXS	Illumina HiSeq	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	11	2329_2330	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	NA					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.2233_2234insTAAAATA	CCDS47246.1																																																																																				0.297	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	NM_032119		5:89933758
FER	2241	broad.mit.edu	37	5	108207143	108207144	+	Frame_Shift_Ins	INS	-	-	GAACAATAAGCATAAGAAATGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:108207143_108207144insGAACAATAAGCATAAGAAATGT	ENST00000281092.4	+	7	1127_1128	c.743_744insGAACAATAAGCATAAGAAATGT	c.(742-747)caaatgfs	p.M249fs	FER_ENST00000536402.1_Frame_Shift_Ins_p.M249fs|FER_ENST00000438717.2_Frame_Shift_Ins_p.M74fs	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	249	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAGAGATTCAAATGTCGGTTG	0.317																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4		NA																	0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(742-747)caaatgfs		fer (fps/fes related) tyrosine kinase																																				SO:0001589	frameshift_variant	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108207143_108207144insGAACAATAAGCATAAGAAATGT	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	Exception_encountered	5.37:g.108207143_108207144insGAACAATAAGCATAAGAAATGT	ENSP00000281092:p.Met249fs	True	False		Somatic	0				FER_ENST00000438717.2_Frame_Shift_Ins_p.M74fs|FER_ENST00000536402.1_Frame_Shift_Ins_p.M249fs	p.M249fs	NM_005246.2	NP_005237.2	WXS	Illumina HiSeq	Phase_I	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	7	1127_1128	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	249			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Frame_Shift_Ins	INS	ENST00000281092.4	37	c.743_744insGAACAATAAGCATAAGAAATGT	CCDS4098.1																																																																																				0.317	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	0	NM_005246		5:108207143
MACF1	23499	broad.mit.edu	37	1	39800633	39800634	+	In_Frame_Ins	INS	-	-	TCACTCTCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:39800633_39800634insTCACTCTCT	ENST00000372915.3	+	36	8475_8476	c.8388_8389insTCACTCTCT	c.(8389-8391)gat>TCACTCTCTgat	p.2796_2797insSLS	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_In_Frame_Ins_p.1231_1232insSLS|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_In_Frame_Ins_p.2828_2829insSLS|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_In_Frame_Ins_p.2791_2792insSLS			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2796					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCTAGGAAAGGATATGTTAAT	0.351																																						ENST00000372915.3		NA																	0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8389-8391)gat>TCACTCTCTgat		microtubule-actin crosslinking factor 1																																				SO:0001652	inframe_insertion	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800633_39800634insTCACTCTCT	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	Exception_encountered	1.37:g.39800633_39800634insTCACTCTCT	ENSP00000362006:p.Lys2796_Asp2797insSerLeuSer	False	False		Somatic	0				MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_In_Frame_Ins_p.2828_2829insSLS|MACF1_ENST00000564288.1_In_Frame_Ins_p.2791_2792insSLS|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_In_Frame_Ins_p.1231_1232insSLS|MACF1_ENST00000476350.1_Intron	p.2796_2797insSLS			WXS	Illumina HiSeq	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		36	8475_8476	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2796					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	In_Frame_Ins	INS	ENST00000372915.3	37	c.8388_8389insTCACTCTCT																																																																																					0.351	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044		1:39800633
MACF1	23499	broad.mit.edu	37	1	39800634	39800635	+	Frame_Shift_Ins	INS	-	-	ATCACTAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:39800634_39800635insATCACTAA	ENST00000372915.3	+	36	8476_8477	c.8389_8390insATCACTAA	c.(8389-8391)gatfs	p.-2797fs	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.-1232fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.-2829fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.-2792fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTAGGAAAGGATATGTTAATT	0.356																																						ENST00000372915.3		NA																	0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8389-8391)gatfs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800634_39800635insATCACTAA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	Exception_encountered	1.37:g.39800634_39800635insATCACTAA	ENSP00000362006:p.Asp2797fs	False	False		Somatic	0				MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.-2829fs|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.-2792fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.-1232fs|MACF1_ENST00000476350.1_Intron	p.-2797fs			WXS	Illumina HiSeq	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		36	8476_8477	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	NA					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.8389_8390insATCACTAA																																																																																					0.356	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044		1:39800634
ZFP69	339559	broad.mit.edu	37	1	40960942	40960943	+	In_Frame_Ins	INS	-	-	TTCCTGGTGCCTTTC	rs116083793	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:40960942_40960943insTTCCTGGTGCCTTTC	ENST00000372706.1	+	6	1798_1799	c.792_793insTTCCTGGTGCCTTTC	c.(793-795)tac>TTCCTGGTGCCTTTCtac	p.264_265insFLVPF	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_In_Frame_Ins_p.264_265insFLVPF			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATCCAACAAGTTACATAAGAAC	0.307																																						ENST00000372706.1		NA																	0					NA						c.(793-795)tac>TTCCTGGTGCCTTTCtac		ZFP69 zinc finger protein																																				SO:0001652	inframe_insertion	339559							g.chr1:40960942_40960943insTTCCTGGTGCCTTTC	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	Exception_encountered	1.37:g.40960942_40960943insTTCCTGGTGCCTTTC	ENSP00000361791:p.Ser264_Tyr265insPheLeuValProPhe	False	False		Somatic	0				RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_In_Frame_Ins_p.264_265insFLVPF	p.264_265insFLVPF			WXS	Illumina HiSeq	Phase_I					6	1798_1799	+			NA					Q5SWM5|Q6ZWK8	In_Frame_Ins	INS	ENST00000372706.1	37	c.792_793insTTCCTGGTGCCTTTC	CCDS30686.1																																																																																				0.307	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	0	NM_198494		1:40960942
ZFP69	339559	broad.mit.edu	37	1	40960944	40960945	+	In_Frame_Ins	INS	-	-	AGACATCAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:40960944_40960945insAGACATCAT	ENST00000372706.1	+	6	1800_1801	c.794_795insAGACATCAT	c.(793-798)tacata>taAGACATCATcata	p.265_265Y>*DII	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_In_Frame_Ins_p.265_265Y>*DII			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCAACAAGTTACATAAGAACAA	0.307																																						ENST00000372706.1		NA																	0					NA						c.(793-798)tacata>taAGACATCATcata		ZFP69 zinc finger protein																																				SO:0001652	inframe_insertion	339559							g.chr1:40960944_40960945insAGACATCAT	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	Exception_encountered	1.37:g.40960944_40960945insAGACATCAT	ENSP00000361791:p.Tyr265delins*AspIleIle	False	False		Somatic	0				RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_In_Frame_Ins_p.265_265Y>*DII	p.265_265Y>*DII			WXS	Illumina HiSeq	Phase_I					6	1800_1801	+			NA					Q5SWM5|Q6ZWK8	In_Frame_Ins	INS	ENST00000372706.1	37	c.794_795insAGACATCAT	CCDS30686.1																																																																																				0.307	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	0	NM_198494		1:40960944
CCDC30	728621	broad.mit.edu	37	1	43047133	43047134	+	In_Frame_Ins	INS	-	-	ACATAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:43047133_43047134insACATAG	ENST00000340612.4	+	7	1168_1169	c.1168_1169insACATAG	c.(1168-1170)aca>aACATAGca	p.390_390T>NIA	CCDC30_ENST00000507855.1_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000428554.2_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000390640.4_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000342022.4_In_Frame_Ins_p.390_390T>NIA			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	390						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAAAGAAGCAACACAAAATGAA	0.406																																						ENST00000340612.4		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1168-1170)aca>aACATAGca		coiled-coil domain containing 30																																				SO:0001652	inframe_insertion	728621							g.chr1:43047133_43047134insACATAG	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	Exception_encountered	1.37:g.43047133_43047134insACATAG	ENSP00000340378:p.Thr390delinsAsnIleAla	False	False		Somatic	0				CCDC30_ENST00000342022.4_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000507855.1_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000390640.4_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000428554.2_In_Frame_Ins_p.390_390T>NIA	p.390_390T>NIA			WXS	Illumina HiSeq	Phase_I	Q5VVM6	CCD30_HUMAN			7	1168_1169	+			390					Q14F06|Q5VVM5	In_Frame_Ins	INS	ENST00000340612.4	37	c.1168_1169insACATAG	CCDS30690.1																																																																																				0.406	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	0	NM_025030		1:43047133
WDR36	134430	broad.mit.edu	37	5	110428229	110428230	+	Frame_Shift_Ins	INS	-	-	ACATAAA	rs149994285	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:110428229_110428230insACATAAA	ENST00000513710.2	+	1	247_248	c.243_244insACATAAA	c.(244-246)gacfs	p.D82fs	WDR36_ENST00000506538.2_Frame_Shift_Ins_p.D82fs|WDR36_ENST00000505303.1_Frame_Shift_Ins_p.D26fs|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	82					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTTCAGCAACGACATTCCACA	0.594																																						ENST00000513710.2		NA																	0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(244-246)gacfs		WD repeat domain 36																																				SO:0001589	frameshift_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110428229_110428230insACATAAA	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	Exception_encountered	5.37:g.110428229_110428230insACATAAA	ENSP00000424628:p.Asp82fs	False	False		Somatic	0				WDR36_ENST00000505303.1_Frame_Shift_Ins_p.D26fs|WDR36_ENST00000506538.2_Frame_Shift_Ins_p.D82fs	p.D82fs			WXS	Illumina HiSeq	Phase_I	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	1	247_248	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	82					A2RUS4|Q68E02|Q8N1Q2	Frame_Shift_Ins	INS	ENST00000513710.2	37	c.243_244insACATAAA	CCDS4102.1																																																																																				0.594	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	0	NM_139281		5:110428229
BRD8	10902	broad.mit.edu	37	5	137502395	137502396	+	In_Frame_Ins	INS	-	-	TTTCATTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:137502395_137502396insTTTCATTTT	ENST00000254900.5	-	10	1179_1180	c.808_809insAAAATGAAA	c.(808-810)ctt>cAAAATGAAAtt	p.270_270L>QNEI	BRD8_ENST00000411594.2_Intron|BRD8_ENST00000230901.5_In_Frame_Ins_p.343_343L>QNEI|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000402931.1_In_Frame_Ins_p.270_270L>QNEI|BRD8_ENST00000455658.2_In_Frame_Ins_p.229_229L>QNEI	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	270					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCTTCTAAAAGCCGGGAAAGA	0.441																																						ENST00000254900.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(808-810)ctt>cAAAATGAAAtt		bromodomain containing 8																																				SO:0001652	inframe_insertion	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137502395_137502396insTTTCATTTT	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.808_809insAAAATGAAA	5.37:g.137502395_137502396insTTTCATTTT	ENSP00000254900:p.Leu270delinsGlnAsnGluIle	True	False		Somatic	0				BRD8_ENST00000230901.5_In_Frame_Ins_p.343_343L>QNEI|BRD8_ENST00000455658.2_In_Frame_Ins_p.229_229L>QNEI|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000402931.1_In_Frame_Ins_p.270_270L>QNEI	p.270_270L>QNEI	NM_139199.1	NP_631938.1	WXS	Illumina HiSeq	Phase_I	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		10	1179_1180	-			270					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	In_Frame_Ins	INS	ENST00000254900.5	37	c.808_809insAAAATGAAA	CCDS4198.1																																																																																				0.441	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	0	NM_006696		5:137502395
PCDHB7	56129	broad.mit.edu	37	5	140552655	140552656	+	In_Frame_Ins	INS	-	-	CCACTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140552655_140552656insCCACTC	ENST00000231137.3	+	1	413_414	c.239_240insCCACTC	c.(238-243)cttact>ctCCACTCtact	p.80_81LT>LHST		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	80	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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGTTCGCTTACTGGTGATC	0.47																																						ENST00000231137.3		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(238-243)cttact>ctCCACTCtact																																						SO:0001652	inframe_insertion	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552655_140552656insCCACTC	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	Exception_encountered	5.37:g.140552655_140552656insCCACTC	ENSP00000231137:p.Leu80_Thr81insHisSer	False	False		Somatic	0					p.80_81LT>LHST	NM_018940.2	NP_061763.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	413_414	+			80			Cadherin 1.		A1L3Y8	In_Frame_Ins	INS	ENST00000231137.3	37	c.239_240insCCACTC	CCDS4249.1																																																																																				0.470	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	NM_018940		5:140552655
PCDHGA7	56108	broad.mit.edu	37	5	140763524	140763525	+	Frame_Shift_Ins	INS	-	-	CGAGTTCAGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140763524_140763525insCGAGTTCAGA	ENST00000518325.1	+	1	1058_1059	c.1058_1059insCGAGTTCAGA	c.(1057-1062)agtagcfs	p.S354fs	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	354	Cadherin 4. {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)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTCTTTAAGTAGCTCAATCC	0.436																																						ENST00000518325.1		NA																	0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1057-1062)agtagcfs																																						SO:0001589	frameshift_variant	0							g.chr5:140763524_140763525insCGAGTTCAGA	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		Exception_encountered	5.37:g.140763524_140763525insCGAGTTCAGA	ENSP00000430024:p.Ser354fs	False	False		Somatic	0				PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	p.S354fs	NM_018920.2	NP_061743.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1058_1059	+			NA					B2RN87|Q9Y5D0	Frame_Shift_Ins	INS	ENST00000518325.1	37	c.1058_1059insCGAGTTCAGA	CCDS54927.1																																																																																				0.436	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	0	NM_018920		5:140763524
AFAP1L1	134265	broad.mit.edu	37	5	148697359	148697360	+	Frame_Shift_Ins	INS	-	-	AGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:148697359_148697360insAGTT	ENST00000296721.4	+	12	1433_1434	c.1335_1336insAGTT	c.(1336-1338)tatfs	p.Y446fs	AFAP1L1_ENST00000515000.1_Frame_Shift_Ins_p.Y446fs	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	446	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACACTCTGTATTTCCACAA	0.594											OREG0016911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296721.4		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1336-1338)tatfs		actin filament associated protein 1-like 1																																				SO:0001589	frameshift_variant	134265						protein binding	g.chr5:148697359_148697360insAGTT	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	Exception_encountered	5.37:g.148697359_148697360insAGTT	ENSP00000296721:p.Tyr446fs	False	False		Somatic	0	OREG0016911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	AFAP1L1_ENST00000515000.1_Frame_Shift_Ins_p.Y446fs	p.Y446fs	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	WXS	Illumina HiSeq	Phase_I	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1433_1434	+			446			PH 2.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Frame_Shift_Ins	INS	ENST00000296721.4	37	c.1335_1336insAGTT	CCDS34274.1																																																																																				0.594	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	0	NM_152406		5:148697359
CLINT1	9685	broad.mit.edu	37	5	157218881	157218882	+	Frame_Shift_Ins	INS	-	-	TCATTGAATGATAGATTAGTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:157218881_157218882insTCATTGAATGATAGATTAGTAT	ENST00000411809.2	-	10	1413_1414	c.1209_1210insATACTAATCTATCATTCAATGA	c.(1207-1212)cttgttfs	p.V404fs	CLINT1_ENST00000523908.1_Frame_Shift_Ins_p.V404fs|CLINT1_ENST00000296951.5_Frame_Shift_Ins_p.V386fs|CLINT1_ENST00000523094.1_Frame_Shift_Ins_p.V386fs|CLINT1_ENST00000530742.1_Frame_Shift_Ins_p.V386fs	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	404					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCACTAACAAGTTCTACCG	0.54																																					Colon(22;427 587 2170 6147 14291)	ENST00000523094.1		NA																	0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(1153-1158)cttgttfs		clathrin interactor 1																																				SO:0001589	frameshift_variant	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218881_157218882insTCATTGAATGATAGATTAGTAT	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1209_1210insATACTAATCTATCATTCAATGA	5.37:g.157218881_157218882insTCATTGAATGATAGATTAGTAT	ENSP00000388340:p.Val404fs	False	False		Somatic	0				CLINT1_ENST00000411809.2_Frame_Shift_Ins_p.V404fs|CLINT1_ENST00000523908.1_Frame_Shift_Ins_p.V404fs|CLINT1_ENST00000296951.5_Frame_Shift_Ins_p.V386fs|CLINT1_ENST00000530742.1_Frame_Shift_Ins_p.V386fs	p.V386fs	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	WXS	Illumina HiSeq	Phase_I	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1360_1361	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	404					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Frame_Shift_Ins	INS	ENST00000411809.2	37	c.1155_1156insATACTAATCTATCATTCAATGA	CCDS47330.1																																																																																				0.540	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	0	NM_014666		5:157218881
LCP2	3937	broad.mit.edu	37	5	169685144	169685145	+	Frame_Shift_Ins	INS	-	-	CAGGCAGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:169685144_169685145insCAGGCAGA	ENST00000046794.5	-	16	1611_1612	c.996_997insTCTGCCTG	c.(994-999)ccagcafs	p.A333fs	LCP2_ENST00000521416.1_Frame_Shift_Ins_p.A128fs	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	333					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAAGTAGTGCTGGCTGGGGCA	0.5																																						ENST00000046794.5		NA																	0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(994-999)ccagcafs		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)																																				SO:0001589	frameshift_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169685144_169685145insCAGGCAGA		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.996_997insTCTGCCTG	5.37:g.169685144_169685145insCAGGCAGA	ENSP00000046794:p.Ala333fs	True	False		Somatic	0				LCP2_ENST00000521416.1_Frame_Shift_Ins_p.A128fs	p.A333fs	NM_005565.3	NP_005556.1	WXS	Illumina HiSeq	Phase_I	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	16	1611_1612	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	333					A8KA25|Q53XV4	Frame_Shift_Ins	INS	ENST00000046794.5	37	c.996_997insTCTGCCTG	CCDS47339.1																																																																																				0.500	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	0	NM_005565		5:169685144
DRD1	1812	broad.mit.edu	37	5	174869195	174869196	+	Frame_Shift_Ins	INS	-	-	ATGTT	rs550657704		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:174869195_174869196insATGTT	ENST00000393752.2	-	2	1899_1900	c.907_908insAACAT	c.(907-909)acgfs	p.T303fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	303					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAAGGGCTGCGTCTCCCCAGAC	0.475																																						ENST00000393752.2		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(907-909)acgfs		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)																																			SO:0001589	frameshift_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869195_174869196insATGTT	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.907_908insAACAT	5.37:g.174869195_174869196insATGTT	ENSP00000377353:p.Thr303fs	False	False		Somatic	0					p.T303fs	NM_000794.3	NP_000785.1	WXS	Illumina HiSeq	Phase_I	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1899_1900	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	303					B2RA44|Q4QRJ0	Frame_Shift_Ins	INS	ENST00000393752.2	37	c.907_908insAACAT	CCDS4393.1																																																																																				0.475	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	0	NM_000794		5:174869195
EEF1E1	9521	broad.mit.edu	37	6	8097696	8097697	+	Frame_Shift_Ins	INS	-	-	TTAATCA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:8097696_8097697insTTAATCA	ENST00000379715.5	-	2	147_148	c.91_92insTGATTAA	c.(91-93)ccafs	p.P31fs	EEF1E1_ENST00000507463.1_Frame_Shift_Ins_p.P31fs|EEF1E1-BLOC1S5_ENST00000397456.2_Frame_Shift_Ins_p.P31fs|EEF1E1_ENST00000429723.2_Frame_Shift_Ins_p.P31fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	31	N-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CTGAAGAACTGGAATCTTAAAA	0.351																																						ENST00000379715.5		NA																	0				endometrium(1)|prostate(1)	2						c.(91-93)ccafs		eukaryotic translation elongation factor 1 epsilon 1																																				SO:0001589	frameshift_variant	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8097696_8097697insTTAATCA	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.91_92insTGATTAA	6.37:g.8097696_8097697insTTAATCA	ENSP00000369038:p.Pro31fs	False	False		Somatic	0				EEF1E1_ENST00000429723.2_Frame_Shift_Ins_p.P31fs|EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Ins_p.P31fs|EEF1E1_ENST00000507463.1_Frame_Shift_Ins_p.P31fs	p.P31fs	NM_004280.4	NP_004271.1	WXS	Illumina HiSeq	Phase_I	O43324	MCA3_HUMAN			2	147_148	-	Ovarian(93;0.0398)		31					C9JLK5|Q5THS2	Frame_Shift_Ins	INS	ENST00000379715.5	37	c.91_92insTGATTAA	CCDS4507.1																																																																																				0.351	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	0	NM_004280		6:8097696
EEF1E1	9521	broad.mit.edu	37	6	8097697	8097698	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:8097697_8097698insA	ENST00000379715.5	-	2	146_147	c.90_91insT	c.(88-93)attccafs	p.P31fs	EEF1E1_ENST00000507463.1_Frame_Shift_Ins_p.P31fs|EEF1E1-BLOC1S5_ENST00000397456.2_Frame_Shift_Ins_p.P31fs|EEF1E1_ENST00000429723.2_Frame_Shift_Ins_p.P31fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	31	N-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TGAAGAACTGGAATCTTAAAAA	0.351																																						ENST00000379715.5		NA																	0				endometrium(1)|prostate(1)	2						c.(88-93)attccafs		eukaryotic translation elongation factor 1 epsilon 1																																				SO:0001589	frameshift_variant	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8097697_8097698insA	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.91dupT	6.37:g.8097699_8097699dupA	ENSP00000369038:p.Pro31fs	False	False		Somatic	2				EEF1E1_ENST00000429723.2_Frame_Shift_Ins_p.P31fs|EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Ins_p.P31fs|EEF1E1_ENST00000507463.1_Frame_Shift_Ins_p.P31fs	p.P31fs	NM_004280.4	NP_004271.1	WXS	Illumina HiSeq	Phase_I	O43324	MCA3_HUMAN			2	146_147	-	Ovarian(93;0.0398)		31					C9JLK5|Q5THS2	Frame_Shift_Ins	INS	ENST00000379715.5	37	c.90_91insT	CCDS4507.1																																																																																				0.351	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	0	NM_004280		6:8097697
HIST1H2BD	3017	broad.mit.edu	37	6	26158765	26158766	+	In_Frame_Ins	INS	-	-	ATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:26158765_26158766insATA	ENST00000289316.2	+	1	392_393	c.368_369insATA	c.(367-372)accagt>acATAcagt	p.123_124TS>TYS	HIST1H2BD_ENST00000377777.4_In_Frame_Ins_p.123_124TS>TYS	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	123					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACCAAGTACACCAGTTCCAAGT	0.52																																						ENST00000289316.2		NA																	0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(367-372)accagt>acATAcagt		histone cluster 1, H2bd																																				SO:0001652	inframe_insertion	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158765_26158766insATA	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	Exception_encountered	6.37:g.26158765_26158766insATA	ENSP00000289316:p.Thr123_Ser124insTyr	False	False		Somatic	0				HIST1H2BD_ENST00000377777.4_In_Frame_Ins_p.123_124TS>TYS	p.123_124TS>TYS	NM_138720.2	NP_619790.1	WXS	Illumina HiSeq	Phase_I	P58876	H2B1D_HUMAN			1	392_393	+			123						In_Frame_Ins	INS	ENST00000289316.2	37	c.368_369insATA	CCDS4587.1																																																																																				0.520	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	0	NM_021063		6:26158765
HIST1H2BD	3017	broad.mit.edu	37	6	26158766	26158767	+	Frame_Shift_Ins	INS	-	-	ACTGAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:26158766_26158767insACTGAAT	ENST00000289316.2	+	1	393_394	c.369_370insACTGAAT	c.(370-372)agtfs	p.S124fs	HIST1H2BD_ENST00000377777.4_Frame_Shift_Ins_p.S124fs	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	124					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CCAAGTACACCAGTTCCAAGTA	0.52																																						ENST00000289316.2		NA																	0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(370-372)agtfs		histone cluster 1, H2bd																																				SO:0001589	frameshift_variant	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158766_26158767insACTGAAT	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	Exception_encountered	6.37:g.26158766_26158767insACTGAAT	ENSP00000289316:p.Ser124fs	False	False		Somatic	0				HIST1H2BD_ENST00000377777.4_Frame_Shift_Ins_p.S124fs	p.S124fs	NM_138720.2	NP_619790.1	WXS	Illumina HiSeq	Phase_I	P58876	H2B1D_HUMAN			1	393_394	+			124						Frame_Shift_Ins	INS	ENST00000289316.2	37	c.369_370insACTGAAT	CCDS4587.1																																																																																				0.520	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	0	NM_021063		6:26158766
BTN2A3P	54718	broad.mit.edu	37	6	26428290	26428291	+	RNA	INS	-	-	CCAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:26428290_26428291insCCAG	ENST00000466808.2	+	0	1259_1260							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											AGAAAGAACATGTGGAAAAAGA	0.436																																						ENST00000466808.2		NA																	0					NA																																														0							g.chr6:26428290_26428291insCCAG	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26428290_26428291insCCAG		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1259_1260	+			NA					A6NEF4	RNA	INS	ENST00000466808.2	37																																																																																						0.436	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	0	NR_027795		6:26428290
PSORS1C1	170679	broad.mit.edu	37	6	31084943	31084945	+	Intron	DEL	CTT	CTT	-	rs57244323|rs540877039	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:31084943_31084945delCTT	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_In_Frame_Del_p.S153del	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						AGAGCTGCTGCTTCCCGAGTGAG	0.571														939	0.1875	0.2065	0.1527	5008	,	,		17220	0.1637		0.1869	False		,,,				2504	0.2117					ENST00000376288.2		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(445-450)ggaagc>ggc		corneodesmosin			,	950,3314		87,776,1269					,	2.5	0.2		dbSNP_126	37	1846,6398		222,1402,2498	no	intron,coding	CDSN,PSORS1C1	NM_014068.2,NM_001264.4	,	309,2178,3767	A1A1,A1R,RR		22.392,22.2795,22.3537	,	,		2796,9712				SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084943_31084945delCTT	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+2275CTT>-	6.37:g.31084943_31084945delCTT		True	False		Somatic	1				PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	p.S153del	NM_001264.4	NP_001255.3	WXS	Illumina HiSeq	Phase_I	Q15517	CDSN_HUMAN			2	473_475	-			153		Missing.	Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	In_Frame_Del	DEL	ENST00000259881.9	37	c.447_449delAAG	CCDS34390.1																																																																																				0.571	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	0	NM_014068		6:31084943
RXRB	6257	broad.mit.edu	37	6	33165666	33165667	+	Frame_Shift_Ins	INS	-	-	GACTGCTCTCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:33165666_33165667insGACTGCTCTCT	ENST00000374680.3	-	4	903_904	c.692_693insAGAGAGCAGTC	c.(691-693)cgcfs	p.-231fs	SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000413614.2_Frame_Shift_Ins_p.-135fs|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000544186.1_Frame_Shift_Ins_p.-41fs|RXRB_ENST00000374685.4_Frame_Shift_Ins_p.-231fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|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)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGCGGATGGTGCGTTTGAAGAA	0.53																																						ENST00000374680.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(691-693)cgcfs		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)																																			SO:0001589	frameshift_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33165666_33165667insGACTGCTCTCT	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.692_693insAGAGAGCAGTC	6.37:g.33165666_33165667insGACTGCTCTCT	ENSP00000363812:p.Arg231fs	False	False		Somatic	0				RXRB_ENST00000413614.2_Frame_Shift_Ins_p.-135fs|RXRB_ENST00000374685.4_Frame_Shift_Ins_p.-231fs|RXRB_ENST00000544186.1_Frame_Shift_Ins_p.-41fs	p.-231fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	WXS	Illumina HiSeq	Phase_I	P28702	RXRB_HUMAN			4	903_904	-			NA					P28703|Q59G65|Q5JP92|Q5STQ1	Frame_Shift_Ins	INS	ENST00000374680.3	37	c.692_693insAGAGAGCAGTC	CCDS4768.1																																																																																				0.530	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	0	NM_021976		6:33165666
MLN	4295	broad.mit.edu	37	6	33768838	33768839	+	Frame_Shift_Ins	INS	-	-	GAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:33768838_33768839insGAAA	ENST00000430124.2	-	2	167_168	c.102_103insTTTC	c.(100-105)gaactcfs	p.L35fs	MLN_ENST00000507738.1_Frame_Shift_Ins_p.L35fs|MLN_ENST00000266003.5_Frame_Shift_Ins_p.L35fs	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	35					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ATCCTCTGGAGTTCGCCATAGG	0.574																																						ENST00000430124.2		NA																	0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(100-105)gaactcfs		motilin																																				SO:0001589	frameshift_variant	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33768838_33768839insGAAA		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"""Endogenous ligands"""	7141	protein-coding gene	gene with protein product	"""prepromotilin"""	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.102_103insTTTC	6.37:g.33768838_33768839insGAAA	ENSP00000388825:p.Leu35fs	False	False		Somatic	0				MLN_ENST00000507738.1_Frame_Shift_Ins_p.L35fs|MLN_ENST00000266003.5_Frame_Shift_Ins_p.L35fs	p.L35fs	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	WXS	Illumina HiSeq	Phase_I	P12872	MOTI_HUMAN			2	167_168	-			35					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Frame_Shift_Ins	INS	ENST00000430124.2	37	c.102_103insTTTC	CCDS4786.1																																																																																				0.574	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4	0			6:33768838
UHRF1BP1	54887	broad.mit.edu	37	6	34824118	34824119	+	Frame_Shift_Ins	INS	-	-	AAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:34824118_34824119insAAAA	ENST00000192788.5	+	10	1394_1395	c.1223_1224insAAAA	c.(1222-1227)tggcatfs	p.WH408fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.WH408fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	408							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATGGAGAAGTGGCATGAAGAGA	0.535																																						ENST00000192788.5		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1222-1227)tggcatfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34824118_34824119insAAAA	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	Exception_encountered	6.37:g.34824118_34824119insAAAA	ENSP00000192788:p.Trp408fs	False	False		Somatic	0				UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.WH408fs	p.WH408fs	NM_017754.3	NP_060224.3	WXS	Illumina HiSeq	Phase_I	Q6BDS2	URFB1_HUMAN			10	1394_1395	+			408					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.1223_1224insAAAA	CCDS43455.1																																																																																				0.535	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	0	NM_017754		6:34824118
UHRF1BP1	54887	broad.mit.edu	37	6	34824119	34824120	+	In_Frame_Ins	INS	-	-	ATTTTAGCCCAAGAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:34824119_34824120insATTTTAGCCCAAGAT	ENST00000192788.5	+	10	1395_1396	c.1224_1225insATTTTAGCCCAAGAT	c.(1225-1227)cat>ATTTTAGCCCAAGATcat	p.408_409insILAQD	UHRF1BP1_ENST00000452449.2_In_Frame_Ins_p.408_409insILAQD	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	408							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGAGAAGTGGCATGAAGAGAC	0.53																																						ENST00000192788.5		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1225-1227)cat>ATTTTAGCCCAAGATcat		UHRF1 binding protein 1																																				SO:0001652	inframe_insertion	54887							g.chr6:34824119_34824120insATTTTAGCCCAAGAT	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	Exception_encountered	6.37:g.34824119_34824120insATTTTAGCCCAAGAT	ENSP00000192788:p.Trp408_His409insIleLeuAlaGlnAsp	False	False		Somatic	0				UHRF1BP1_ENST00000452449.2_In_Frame_Ins_p.408_409insILAQD	p.408_409insILAQD	NM_017754.3	NP_060224.3	WXS	Illumina HiSeq	Phase_I	Q6BDS2	URFB1_HUMAN			10	1395_1396	+			408					Q9NXE0	In_Frame_Ins	INS	ENST00000192788.5	37	c.1224_1225insATTTTAGCCCAAGAT	CCDS43455.1																																																																																				0.530	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	0	NM_017754		6:34824119
TNFRSF21	27242	broad.mit.edu	37	6	47254274	47254275	+	In_Frame_Ins	INS	-	-	CCCCAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:47254274_47254275insCCCCAT	ENST00000296861.2	-	2	546_547	c.153_154insATGGGG	c.(151-156)attggc>attATGGGGggc	p.51_52IG>IMGG		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	51					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CGGTATGTGCCAATGAGATTCG	0.515																																						ENST00000296861.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(151-156)attggc>attATGGGGggc		tumor necrosis factor receptor superfamily, member 21																																				SO:0001652	inframe_insertion	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47254274_47254275insCCCCAT	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.153_154insATGGGG	6.37:g.47254274_47254275insCCCCAT	ENSP00000296861:p.Ile51_Gly52insMetGly	False	False		Somatic	0					p.51_52IG>IMGG	NM_014452.3	NP_055267.1	WXS	Illumina HiSeq	Phase_I	O75509	TNR21_HUMAN	Lung(136;0.189)		2	546_547	-			51					B2RDI9|Q0D2P5|Q96D86	In_Frame_Ins	INS	ENST00000296861.2	37	c.153_154insATGGGG	CCDS4921.1																																																																																				0.515	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	0	NM_014452		6:47254274
CD109	135228	broad.mit.edu	37	6	74492428	74492429	+	Frame_Shift_Ins	INS	-	-	ACAAAATGAATGTCAATCACTTGAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:74492428_74492429insACAAAATGAATGTCAATCACTTGAG	ENST00000287097.5	+	18	2167_2168	c.2055_2056insACAAAATGAATGTCAATCACTTGAG	c.(2056-2058)gtcfs	p.V686fs	CD109_ENST00000422508.2_Frame_Shift_Ins_p.V609fs|CD109_ENST00000437994.2_Frame_Shift_Ins_p.V686fs			Q6YHK3	CD109_HUMAN	CD109 molecule	686	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGTCCACATGTCCGAAAGCA	0.351																																						ENST00000287097.5		NA																	0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2056-2058)gtcfs		CD109 molecule																																				SO:0001589	frameshift_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74492428_74492429insACAAAATGAATGTCAATCACTTGAG	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	Exception_encountered	6.37:g.74492428_74492429insACAAAATGAATGTCAATCACTTGAG	ENSP00000287097:p.Val686fs	False	False		Somatic	0				CD109_ENST00000437994.2_Frame_Shift_Ins_p.V686fs|CD109_ENST00000422508.2_Frame_Shift_Ins_p.V609fs	p.V686fs			WXS	Illumina HiSeq	Phase_I	Q6YHK3	CD109_HUMAN			18	2167_2168	+			686			Bait region (approximate) (By similarity).		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Frame_Shift_Ins	INS	ENST00000287097.5	37	c.2055_2056insACAAAATGAATGTCAATCACTTGAG	CCDS4982.1																																																																																				0.351	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	0	NM_133493		6:74492428
DIO1	1733	broad.mit.edu	37	1	54370396	54370397	+	Frame_Shift_Ins	INS	-	-	TTCTGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:54370396_54370397insTTCTGTT	ENST00000361921.3	+	2	419_420	c.395_396insTTCTGTT	c.(394-399)aaatttfs	p.KF132fs	DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000524406.1_Frame_Shift_Ins_p.KF3fs|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.KF132fs|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.KF68fs	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	132					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TTTATGTTCAAATTTGACCAGT	0.391																																						ENST00000361921.3		NA																	0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(394-399)aaatttfs		deiodinase, iodothyronine, type I																																				SO:0001589	frameshift_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54370396_54370397insTTCTGTT		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	Exception_encountered	1.37:g.54370396_54370397insTTCTGTT	ENSP00000354643:p.Lys132fs	True	False		Somatic	0				DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.KF132fs|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.KF68fs|DIO1_ENST00000524406.1_Frame_Shift_Ins_p.KF3fs|DIO1_ENST00000388876.3_Intron	p.KF132fs	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	WXS	Illumina HiSeq	Phase_I	P49895	IOD1_HUMAN			2	419_420	+			132					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Frame_Shift_Ins	INS	ENST00000361921.3	37	c.395_396insTTCTGTT	CCDS41339.1																																																																																				0.391	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3	0			1:54370396
GRIK2	2898	broad.mit.edu	37	6	102503417	102503429	+	Frame_Shift_Del	DEL	TTTTTATACAAAT	TTTTTATACAAAT	-	rs199679786		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTTTTATACAAAT	TTTTTATACAAAT	-	-	TTTTTATACAAAT	TTTTTATACAAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:102503417_102503429delTTTTTATACAAAT	ENST00000421544.1	+	15	3014_3026	c.2524_2536delTTTTTATACAAAT	c.(2524-2538)tttttatacaaatccfs	p.FLYKS842fs	GRIK2_ENST00000413795.1_Frame_Shift_Del_p.FLYKS842fs|GRIK2_ENST00000369137.3_Frame_Shift_Del_p.FLYKS766fs|GRIK2_ENST00000369134.4_Frame_Shift_Del_p.FLYKS793fs|GRIK2_ENST00000369138.1_Frame_Shift_Del_p.FLYKS842fs|GRIK2_ENST00000318991.6_Frame_Shift_Del_p.FLYKS842fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	842					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.Y844*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGTGGGAGAATTTTTATACAAATCCAAAAAAAA	0.371																																						ENST00000369138.1		NA																	2	Substitution - Nonsense(2)	p.Y844*(2)	lung(2)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2524-2538)tttttatacaaatccfs		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503417_102503429delTTTTTATACAAAT		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2524_2536delTTTTTATACAAAT	6.37:g.102503417_102503429delTTTTTATACAAAT	ENSP00000397026:p.Phe842fs	False	False		Somatic	1				GRIK2_ENST00000318991.6_Frame_Shift_Del_p.FLYKS842fs|GRIK2_ENST00000413795.1_Frame_Shift_Del_p.FLYKS842fs|GRIK2_ENST00000369137.3_Frame_Shift_Del_p.FLYKS766fs|GRIK2_ENST00000369134.4_Frame_Shift_Del_p.FLYKS793fs|GRIK2_ENST00000421544.1_Frame_Shift_Del_p.FLYKS842fs	p.FLYKS842fs	NM_001166247.1	NP_001159719.1	WXS	Illumina HiSeq	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	3014_3026	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	842					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Del	DEL	ENST00000421544.1	37	c.2524_2536delTTTTTATACAAAT	CCDS5048.1																																																																																				0.371	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	0			6:102503417
POPDC3	64208	broad.mit.edu	37	6	105609597	105609598	+	Frame_Shift_Ins	INS	-	-	GATTGCTTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:105609597_105609598insGATTGCTTTG	ENST00000254765.3	-	2	465_466	c.187_188insCAAAGCAATC	c.(187-189)tgtfs	p.C63fs	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	63					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GACAGCAGAACAGAGAAAACCC	0.421																																						ENST00000254765.3		NA																	0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(187-189)tgtfs		popeye domain containing 3																																				SO:0001589	frameshift_variant	64208					integral to membrane		g.chr6:105609597_105609598insGATTGCTTTG	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.187_188insCAAAGCAATC	6.37:g.105609597_105609598insGATTGCTTTG	ENSP00000254765:p.Cys63fs	False	False		Somatic	0				BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA	p.C63fs	NM_022361.4	NP_071756.2	WXS	Illumina HiSeq	Phase_I	Q9HBV1	POPD3_HUMAN			2	465_466	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	63					B2RA98|Q5T3Y8|Q8TBW6	Frame_Shift_Ins	INS	ENST00000254765.3	37	c.187_188insCAAAGCAATC	CCDS5052.1																																																																																				0.421	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	0	NM_022361		6:105609597
THEMIS	387357	broad.mit.edu	37	6	128134142	128134143	+	Frame_Shift_Ins	INS	-	-	TGTGTTTTGCTTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:128134142_128134143insTGTGTTTTGCTTA	ENST00000368248.2	-	4	1791_1792	c.1643_1644insTAAGCAAAACACA	c.(1642-1644)agcfs	p.-548fs	THEMIS_ENST00000537166.1_Frame_Shift_Ins_p.-513fs|THEMIS_ENST00000368250.1_Frame_Shift_Ins_p.-469fs|THEMIS_ENST00000543064.1_Frame_Shift_Ins_p.-548fs	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)		p.S548T(1)		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						GTGAGGCTGAGCTTTCATATCT	0.465																																						ENST00000368250.1		NA																	1	Substitution - Missense(1)	p.S548T(1)	lung(1)	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.(1405-1407)agcfs		thymocyte selection associated																																				SO:0001589	frameshift_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134142_128134143insTGTGTTTTGCTTA	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.1643_1644insTAAGCAAAACACA	6.37:g.128134142_128134143insTGTGTTTTGCTTA	ENSP00000357231:p.Ser548fs	True	False		Somatic	0				THEMIS_ENST00000537166.1_Frame_Shift_Ins_p.-513fs|THEMIS_ENST00000368248.2_Frame_Shift_Ins_p.-548fs|THEMIS_ENST00000543064.1_Frame_Shift_Ins_p.-548fs	p.-469fs			WXS	Illumina HiSeq	Phase_I	Q8N1K5	THMS1_HUMAN			5	1904_1905	-			NA					A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Ins	INS	ENST00000368248.2	37	c.1406_1407insTAAGCAAAACACA	CCDS34534.1																																																																																				0.465	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_001010923		6:128134142
HIVEP2	3097	broad.mit.edu	37	6	143095710	143095711	+	Frame_Shift_Ins	INS	-	-	TTTTCCTATA	rs376382690|rs181820131	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:143095710_143095711insTTTTCCTATA	ENST00000367604.1	-	4	804_805	c.165_166insTATAGGAAAA	c.(163-168)atcggafs	p.G56fs	HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.G56fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.G56fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	56					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.I55I(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCTGTGTTTCCGATTTGCTCAG	0.495																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367604.1		NA																	1	Substitution - coding silent(1)	p.I55I(1)	NS(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(163-168)atcggafs		human immunodeficiency virus type I enhancer binding protein 2																																				SO:0001589	frameshift_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143095710_143095711insTTTTCCTATA	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.165_166insTATAGGAAAA	6.37:g.143095710_143095711insTTTTCCTATA	ENSP00000356576:p.Gly56fs	False	False		Somatic	0				HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.G56fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.G56fs	p.G56fs			WXS	Illumina HiSeq	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	4	804_805	-			56					Q02646|Q5THT5|Q9NS05	Frame_Shift_Ins	INS	ENST00000367604.1	37	c.165_166insTATAGGAAAA	CCDS43510.1																																																																																				0.495	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	0			6:143095710
UTRN	7402	broad.mit.edu	37	6	144999699	144999700	+	Frame_Shift_Ins	INS	-	-	TAGATAATGCAAGTGTTAGGAATCAGTATATCTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:144999699_144999700insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	ENST00000367545.3	+	51	7637_7638	c.7637_7638insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	c.(7636-7641)aaatctfs	p.KS2546fs	UTRN_ENST00000367526.4_Frame_Shift_Ins_p.KS101fs	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2546					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)		TTAAAAGCAAAATCTGCTAGCA	0.371																																						ENST00000367545.3		NA																	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.(7636-7641)aaatctfs		utrophin																																				SO:0001589	frameshift_variant	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.chr6:144999699_144999700insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	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	Exception_encountered	6.37:g.144999699_144999700insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	ENSP00000356515:p.Lys2546fs	True	False		Somatic	0				UTRN_ENST00000367526.4_Frame_Shift_Ins_p.KS101fs	p.KS2546fs	NM_007124.2	NP_009055.2	WXS	Illumina HiSeq	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	51	7637_7638	+		Ovarian(120;0.218)	2546					Q5SYY1|Q5SZ57|Q9UJ40	Frame_Shift_Ins	INS	ENST00000367545.3	37	c.7637_7638insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	CCDS34547.1																																																																																				0.371	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1	0			6:144999699
SYNE1	23345	broad.mit.edu	37	6	152642949	152642950	+	Frame_Shift_Ins	INS	-	-	TTTTAGTTGAACATACTTGTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:152642949_152642950insTTTTAGTTGAACATACTTGTTT	ENST00000367255.5	-	83	16590_16591	c.15989_15990insAAACAAGTATGTTCAACTAAAA	c.(15988-15990)actfs	p.-5330fs	SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.-5330fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.-5003fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.-5259fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.-5259fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATTGATCTGAGTCTCCACCAT	0.391										HNSCC(10;0.0054)																												ENST00000367255.5		NA																	0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15988-15990)actfs		spectrin repeat containing, nuclear envelope 1																																				SO:0001589	frameshift_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152642949_152642950insTTTTAGTTGAACATACTTGTTT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15989_15990insAAACAAGTATGTTCAACTAAAA	6.37:g.152642949_152642950insTTTTAGTTGAACATACTTGTTT	ENSP00000356224:p.Thr5330fs	False	False	HNSCC(10;0.0054)	Somatic	0				SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.-5330fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.-5259fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.-5259fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.-5003fs	p.-5330fs	NM_182961.3	NP_892006.3	WXS	Illumina HiSeq	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	83	16590_16591	-		Ovarian(120;0.0955)	NA					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Ins	INS	ENST00000367255.5	37	c.15989_15990insAAACAAGTATGTTCAACTAAAA	CCDS5236.2																																																																																				0.391	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	0	NM_182961		6:152642949
COL28A1	340267	broad.mit.edu	37	7	7398398	7398399	+	Frame_Shift_Ins	INS	-	-	CAATACAAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:7398398_7398399insCAATACAAAT	ENST00000399429.3	-	35	3383_3384	c.3243_3244insATTTGTATTG	c.(3241-3246)tgtggtfs	p.CG1081fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1081	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACATATTCACCACAGTTTCCAG	0.391																																						ENST00000399429.3		NA																	0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(3241-3246)tgtggtfs		collagen, type XXVIII, alpha 1																																				SO:0001589	frameshift_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7398398_7398399insCAATACAAAT	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3243_3244insATTTGTATTG	7.37:g.7398398_7398399insCAATACAAAT	ENSP00000382356:p.Cys1081fs	False	False		Somatic	0					p.CG1081fs	NM_001037763.2	NP_001032852.2	WXS	Illumina HiSeq	Phase_I	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	35	3383_3384	-		Ovarian(82;0.0789)	1081			BPTI/Kunitz inhibitor.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Frame_Shift_Ins	INS	ENST00000399429.3	37	c.3243_3244insATTTGTATTG	CCDS43553.1																																																																																				0.391	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	0	NM_001037763		7:7398398
STK31	56164	broad.mit.edu	37	7	23775195	23775196	+	Frame_Shift_Ins	INS	-	-	ATCTCTATATTACTTTGCTGTTGGCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:23775195_23775196insATCTCTATATTACTTTGCTGTTGGCT	ENST00000355870.3	+	7	641_642	c.522_523insATCTCTATATTACTTTGCTGTTGGCT	c.(523-525)atafs	p.-175fs	STK31_ENST00000433467.2_Frame_Shift_Ins_p.-175fs|STK31_ENST00000354639.3_Frame_Shift_Ins_p.-152fs|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Frame_Shift_Ins_p.-152fs	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31							acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGAAAAGGAAATAAAAATGAG	0.386																																						ENST00000354639.3		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(454-456)atafs		serine/threonine kinase 31																																				SO:0001589	frameshift_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775195_23775196insATCTCTATATTACTTTGCTGTTGGCT	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	Exception_encountered	7.37:g.23775195_23775196insATCTCTATATTACTTTGCTGTTGGCT	ENSP00000348132:p.Ile175fs	True	False		Somatic	0				STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Frame_Shift_Ins_p.-152fs|STK31_ENST00000433467.2_Frame_Shift_Ins_p.-175fs|STK31_ENST00000355870.3_Frame_Shift_Ins_p.-175fs	p.-152fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	WXS	Illumina HiSeq	Phase_I	Q9BXU1	STK31_HUMAN			7	917_918	+			NA					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Frame_Shift_Ins	INS	ENST00000355870.3	37	c.453_454insATCTCTATATTACTTTGCTGTTGGCT	CCDS5386.1																																																																																				0.386	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	0	NM_031414		7:23775195
NEUROD6	63974	broad.mit.edu	37	7	31378366	31378367	+	In_Frame_Ins	INS	-	-	GCGTATGAATCCTTC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:31378366_31378367insGCGTATGAATCCTTC	ENST00000297142.3	-	2	838_839	c.516_517insGAAGGATTCATACGC	c.(514-519)ccaact>ccaGAAGGATTCATACGCact	p.172_173PT>PEGFIRT		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	172					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGTTTGTAGTTGGCTGGGAAA	0.51																																						ENST00000297142.3		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(514-519)ccaact>ccaGAAGGATTCATACGCact		neuronal differentiation 6																																				SO:0001652	inframe_insertion	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378366_31378367insGCGTATGAATCCTTC	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.516_517insGAAGGATTCATACGC	7.37:g.31378366_31378367insGCGTATGAATCCTTC	ENSP00000297142:p.Pro172_Thr173insGluGlyPheIleArg	False	False		Somatic	0					p.172_173PT>PEGFIRT	NM_022728.2	NP_073565.2	WXS	Illumina HiSeq	Phase_I	Q96NK8	NDF6_HUMAN			2	838_839	-			172					Q548T9|Q9H3H6	In_Frame_Ins	INS	ENST00000297142.3	37	c.516_517insGAAGGATTCATACGC	CCDS5434.1																																																																																				0.510	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	0	NM_022728		7:31378366
NME8	51314	broad.mit.edu	37	7	37924009	37924010	+	Frame_Shift_Ins	INS	-	-	TTTTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:37924009_37924010insTTTTG	ENST00000199447.4	+	13	1471_1472	c.1099_1100insTTTTG	c.(1099-1101)aatfs	p.N367fs	NME8_ENST00000440017.1_Frame_Shift_Ins_p.N367fs|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	367	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GGAATATGAAAATGAAGACTAT	0.307																																						ENST00000199447.4		NA																	0					NA						c.(1099-1101)aatfs		NME/NM23 family member 8																																				SO:0001589	frameshift_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37924009_37924010insTTTTG	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	Exception_encountered	7.37:g.37924009_37924010insTTTTG	ENSP00000199447:p.Asn367fs	True	False		Somatic	0				EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Frame_Shift_Ins_p.N367fs	p.N367fs	NM_016616.4	NP_057700.3	WXS	Illumina HiSeq	Phase_I	Q8N427	TXND3_HUMAN			13	1471_1472	+			367			NDK 2.		Q9NZH1	Frame_Shift_Ins	INS	ENST00000199447.4	37	c.1099_1100insTTTTG	CCDS5452.1																																																																																				0.307	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	0	NM_016616		7:37924009
NME8	51314	broad.mit.edu	37	7	37924010	37924011	+	Frame_Shift_Ins	INS	-	-	AAGTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:37924010_37924011insAAGTT	ENST00000199447.4	+	13	1472_1473	c.1100_1101insAAGTT	c.(1099-1104)aatgaafs	p.NE367fs	NME8_ENST00000440017.1_Frame_Shift_Ins_p.NE367fs|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	367	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GAATATGAAAATGAAGACTATT	0.307																																						ENST00000199447.4		NA																	0					NA						c.(1099-1104)aatgaafs		NME/NM23 family member 8																																				SO:0001589	frameshift_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37924010_37924011insAAGTT	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	Exception_encountered	7.37:g.37924010_37924011insAAGTT	ENSP00000199447:p.Asn367fs	True	False		Somatic	0				EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Frame_Shift_Ins_p.NE367fs	p.NE367fs	NM_016616.4	NP_057700.3	WXS	Illumina HiSeq	Phase_I	Q8N427	TXND3_HUMAN			13	1472_1473	+			367			NDK 2.		Q9NZH1	Frame_Shift_Ins	INS	ENST00000199447.4	37	c.1100_1101insAAGTT	CCDS5452.1																																																																																				0.307	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	0	NM_016616		7:37924010
GRB10	2887	broad.mit.edu	37	7	50683966	50683967	+	Frame_Shift_Ins	INS	-	-	CTTAATAAGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:50683966_50683967insCTTAATAAGC	ENST00000401949.1	-	11	1393_1394	c.924_925insGCTTATTAAG	c.(922-927)aaaaagfs	p.K309fs	GRB10_ENST00000402497.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000335866.3_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000403097.1_Frame_Shift_Ins_p.K303fs|GRB10_ENST00000398810.2_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000398812.2_Frame_Shift_Ins_p.K309fs|GRB10_ENST00000406641.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000402578.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000439599.1_Frame_Shift_Ins_p.K303fs|GRB10_ENST00000407526.1_Frame_Shift_Ins_p.K251fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	309	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACATACAGCTTTTTCCATGATT	0.406									Russell-Silver syndrome																													ENST00000403097.1		NA																	0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(904-909)aaaaagfs		growth factor receptor-bound protein 10																																				SO:0001589	frameshift_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50683966_50683967insCTTAATAAGC		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.924_925insGCTTATTAAG	7.37:g.50683966_50683967insCTTAATAAGC	ENSP00000385770:p.Lys309fs	True	False		Somatic	0				GRB10_ENST00000398812.2_Frame_Shift_Ins_p.K309fs|GRB10_ENST00000402497.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000407526.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000439599.1_Frame_Shift_Ins_p.K303fs|GRB10_ENST00000406641.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000335866.3_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000402578.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000401949.1_Frame_Shift_Ins_p.K309fs|GRB10_ENST00000398810.2_Frame_Shift_Ins_p.K251fs	p.K303fs			WXS	Illumina HiSeq	Phase_I	Q13322	GRB10_HUMAN			10	1686_1687	-	Glioma(55;0.08)|all_neural(89;0.245)		309			PH.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Frame_Shift_Ins	INS	ENST00000401949.1	37	c.906_907insGCTTATTAAG	CCDS43582.1																																																																																				0.406	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1	0			7:50683966
COBL	23242	broad.mit.edu	37	7	51153000	51153001	+	Splice_Site	INS	-	-	TTAAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:51153000_51153001insTTAAT	ENST00000265136.7	-	7	1123_1124	c.958_959insATTAA	c.(958-960)gta>gATTAAta	p.V320fs	COBL_ENST00000395540.2_Splice_Site_p.V320fs|COBL_ENST00000441453.1_Splice_Site_p.V320fs|COBL_ENST00000395542.2_Splice_Site_p.V345fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	320	Pro-rich.				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)					CCCAAGAGATACCTATGAAGTA	0.51																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000265136.7		NA																	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.(958-960)gta>gATTAAta		cordon-bleu WH2 repeat protein																																				SO:0001630	splice_region_variant	23242							g.chr7:51153000_51153001insTTAAT	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.958-1->ATTAA	7.37:g.51153000_51153001insTTAAT		False	False		Somatic	0				COBL_ENST00000395542.2_Splice_Site_p.V345fs|COBL_ENST00000395540.2_Splice_Site_p.V320fs|COBL_ENST00000441453.1_Splice_Site_p.V320fs	p.V320fs	NM_015198.3	NP_056013.2	WXS	Illumina HiSeq	Phase_I	O75128	COBL_HUMAN			7	1123_1124	-	Glioma(55;0.08)		320			Pro-rich.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Splice_Site	INS	ENST00000265136.7	37	c.958_959insATTAA	CCDS34637.1																																																																																				0.510	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	NM_015198	Frame_Shift_Ins	7:51153000
ZNF273	10793	broad.mit.edu	37	7	64388279	64388280	+	In_Frame_Ins	INS	-	-	TGTCCATATTTTCCATATCTTCTCAGTATC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:64388279_64388280insTGTCCATATTTTCCATATCTTCTCAGTATC	ENST00000476120.1	+	4	644_645	c.573_574insTGTCCATATTTTCCATATCTTCTCAGTATC	c.(574-576)aat>TGTCCATATTTTCCATATCTTCTCAGTATCaat	p.191_192insCPYFPYLLSI	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_In_Frame_Ins_p.126_127insCPYFPYLLSI	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	191					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)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATAAATTCTCAAATTCAAATAT	0.302																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(574-576)aat>TGTCCATATTTTCCATATCTTCTCAGTATCaat		zinc finger protein 273																																				SO:0001652	inframe_insertion	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388279_64388280insTGTCCATATTTTCCATATCTTCTCAGTATC	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		Exception_encountered	7.37:g.64388279_64388280insTGTCCATATTTTCCATATCTTCTCAGTATC	ENSP00000418719:p.Ser191_Asn192insCysProTyrPheProTyrLeuLeuSerIle	True	False		Somatic	0				ZNF273_ENST00000319636.5_In_Frame_Ins_p.126_127insCPYFPYLLSI|ZNF273_ENST00000527278.1_3'UTR	p.191_192insCPYFPYLLSI	NM_021148.2	NP_066971.2	WXS	Illumina HiSeq	Phase_I	Q14593	ZN273_HUMAN			4	644_645	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	191					B3KQZ5|Q6P3V4	In_Frame_Ins	INS	ENST00000476120.1	37	c.573_574insTGTCCATATTTTCCATATCTTCTCAGTATC	CCDS5528.2																																																																																				0.302	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1	0			7:64388279
IFI44	10561	broad.mit.edu	37	1	79116059	79116060	+	In_Frame_Ins	INS	-	-	ATATTTTCCATTAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:79116059_79116060insATATTTTCCATTAAA	ENST00000370747.4	+	2	264_265	c.179_180insATATTTTCCATTAAA	c.(178-183)attatt>atATATTTTCCATTAAAtatt	p.60_61II>IYFPLNI	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	60					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGATCATATTATTGGAGCAT	0.381																																						ENST00000370747.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(178-183)attatt>atATATTTTCCATTAAAtatt		interferon-induced protein 44																																				SO:0001652	inframe_insertion	10561				response to virus	cytoplasm		g.chr1:79116059_79116060insATATTTTCCATTAAA	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	Exception_encountered	1.37:g.79116059_79116060insATATTTTCCATTAAA	ENSP00000359783:p.Ile60_Ile61insTyrPheProLeuAsn	False	False		Somatic	0				IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	p.60_61II>IYFPLNI	NM_006417.4	NP_006408.3	WXS	Illumina HiSeq	Phase_I	Q8TCB0	IFI44_HUMAN			2	264_265	+			60					B7ZAG3|D3DQ80|Q14496	In_Frame_Ins	INS	ENST00000370747.4	37	c.179_180insATATTTTCCATTAAA	CCDS688.1																																																																																				0.381	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	0	NM_006417		1:79116059
KMT2E	55904	broad.mit.edu	37	7	104717571	104717572	+	Frame_Shift_Ins	INS	-	-	CTTACGG	rs199977896		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:104717571_104717572insCTTACGG	ENST00000311117.3	+	10	1475_1476	c.930_931insCTTACGG	c.(931-933)aatfs	p.N311fs	KMT2E_ENST00000476671.1_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	311					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TAGGCAATGGAAATGACAAAAA	0.371																																						ENST00000311117.3		NA																	0					NA						c.(931-933)aatfs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104717571_104717572insCTTACGG	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	Exception_encountered	7.37:g.104717571_104717572insCTTACGG	ENSP00000312379:p.Asn311fs	True	False		Somatic	0				KMT2E_ENST00000334877.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000476671.1_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.N311fs|KMT2E_ENST00000334914.7_5'UTR	p.N311fs	NM_182931.2	NP_891847.1	WXS	Illumina HiSeq	Phase_I					10	1475_1476	+			NA					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Ins	INS	ENST00000311117.3	37	c.930_931insCTTACGG	CCDS34723.1																																																																																				0.371	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1	0			7:104717571
LRRC4	64101	broad.mit.edu	37	7	127669550	127669551	+	In_Frame_Ins	INS	-	-	CACAGTAACAGT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:127669550_127669551insCACAGTAACAGT	ENST00000249363.3	-	2	1400_1401	c.1143_1144insACTGTTACTGTG	c.(1141-1146)tccgtg>tccACTGTTACTGTGgtg	p.381_382SV>STVTVV	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	381	Ig-like.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AACCACTTCACGGAGGACATAG	0.579																																						ENST00000249363.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(1141-1146)tccgtg>tccACTGTTACTGTGgtg		leucine rich repeat containing 4																																				SO:0001652	inframe_insertion	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127669550_127669551insCACAGTAACAGT	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1143_1144insACTGTTACTGTG	7.37:g.127669550_127669551insCACAGTAACAGT	ENSP00000249363:p.Ser381_Val382insThrValThrVal	False	False		Somatic	0				SND1_ENST00000354725.3_Intron	p.381_382SV>STVTVV	NM_022143.4	NP_071426.1	WXS	Illumina HiSeq	Phase_I	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	1400_1401	-			381			Ig-like.		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	In_Frame_Ins	INS	ENST00000249363.3	37	c.1143_1144insACTGTTACTGTG	CCDS5799.1																																																																																				0.579	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	0	NM_022143		7:127669550
TAS2R3	50831	broad.mit.edu	37	7	141464367	141464368	+	In_Frame_Ins	INS	-	-	AGAATTCTATTAAAAAACTAT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:141464367_141464368insAGAATTCTATTAAAAAACTAT	ENST00000247879.2	+	1	471_472	c.409_410insAGAATTCTATTAAAAAACTAT	c.(409-411)gca>gAGAATTCTATTAAAAAACTATca	p.137_137A>ENSIKKLS	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	137					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)					GCTGTTGGGTGCACTGCTCTTA	0.485																																						ENST00000247879.2		NA																	0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(409-411)gca>gAGAATTCTATTAAAAAACTATca		taste receptor, type 2, member 3																																				SO:0001652	inframe_insertion	50831				sensory perception of taste		taste receptor activity	g.chr7:141464367_141464368insAGAATTCTATTAAAAAACTAT	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	Exception_encountered	7.37:g.141464367_141464368insAGAATTCTATTAAAAAACTAT	ENSP00000247879:p.Ala137delinsGluAsnSerIleLysLysLeuSer	False	False		Somatic	0				SSBP1_ENST00000465582.1_Intron	p.137_137A>ENSIKKLS	NM_016943.2	NP_058639.1	WXS	Illumina HiSeq	Phase_I	Q9NYW6	TA2R3_HUMAN			1	471_472	+	Melanoma(164;0.0171)		137					A4D1U2|Q645W2|Q75MV6	In_Frame_Ins	INS	ENST00000247879.2	37	c.409_410insAGAATTCTATTAAAAAACTAT	CCDS5867.1																																																																																				0.485	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1	0			7:141464367
RNF32	140545	broad.mit.edu	37	7	156437351	156437352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:156437351_156437352insT	ENST00000405335.1	+	4	583_584	c.174_175insT	c.(175-177)atafs	p.I59fs	RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392741.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	59						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATACAAAGGCAATAATAGATAC	0.361																																						ENST00000392741.2		NA																	0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(175-177)atafs		ring finger protein 32																																				SO:0001589	frameshift_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437351_156437352insT		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	Exception_encountered	7.37:g.156437351_156437352insT	ENSP00000385285:p.Ile59fs	False	False		Somatic	0				RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR	p.I59fs			WXS	Illumina HiSeq	Phase_I	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	262_263	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	59					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Frame_Shift_Ins	INS	ENST00000405335.1	37	c.174_175insT	CCDS5944.1																																																																																				0.361	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	0	NM_030936		7:156437351
RNF32	140545	broad.mit.edu	37	7	156437352	156437353	+	Frame_Shift_Ins	INS	-	-	TTTAGAGGAGTATTATG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:156437352_156437353insTTTAGAGGAGTATTATG	ENST00000405335.1	+	4	584_585	c.175_176insTTTAGAGGAGTATTATG	c.(175-177)atafs	p.-59fs	RNF32_ENST00000317955.5_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392741.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACAAAGGCAATAATAGATACT	0.361																																						ENST00000392741.2		NA																	0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(175-177)atafs		ring finger protein 32																																				SO:0001589	frameshift_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437352_156437353insTTTAGAGGAGTATTATG		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	Exception_encountered	7.37:g.156437352_156437353insTTTAGAGGAGTATTATG	ENSP00000385285:p.Ile59fs	False	False		Somatic	0				RNF32_ENST00000343665.4_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000480011.1_3'UTR	p.-59fs			WXS	Illumina HiSeq	Phase_I	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	263_264	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	NA					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Frame_Shift_Ins	INS	ENST00000405335.1	37	c.175_176insTTTAGAGGAGTATTATG	CCDS5944.1																																																																																				0.361	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	0	NM_030936		7:156437352
LEPROTL1	23484	broad.mit.edu	37	8	29961992	29961993	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:29961992_29961993insAAAAAGAAAAATA	ENST00000321250.8	+	3	384_385	c.269_270insAAAAAGAAAAATA	c.(268-273)agagcafs	p.A91fs	LEPROTL1_ENST00000518001.1_Frame_Shift_Ins_p.A30fs|LEPROTL1_ENST00000442880.2_Frame_Shift_Ins_p.A91fs|LEPROTL1_ENST00000518192.1_Frame_Shift_Ins_p.A114fs|LEPROTL1_ENST00000523116.1_Frame_Shift_Ins_p.A91fs	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	91						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTATTTGCCAGAGCACATCTGG	0.356																																						ENST00000442880.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)	5						c.(268-273)agagcafs		leptin receptor overlapping transcript-like 1																																				SO:0001589	frameshift_variant	23484					integral to membrane		g.chr8:29961992_29961993insAAAAAGAAAAATA	AF063605	CCDS6075.1, CCDS47834.1	8p12	2014-09-11			ENSG00000104660	ENSG00000104660			6555	protein-coding gene	gene with protein product		607338				11342119	Standard	NM_015344		Approved	my047, Vps55	uc003xhx.2	O95214	OTTHUMG00000163820	Exception_encountered	8.37:g.29961992_29961993insAAAAAGAAAAATA	ENSP00000314625:p.Ala91fs	False	False		Somatic	0				LEPROTL1_ENST00000518192.1_Frame_Shift_Ins_p.A114fs|LEPROTL1_ENST00000523116.1_Frame_Shift_Ins_p.A91fs|LEPROTL1_ENST00000518001.1_Frame_Shift_Ins_p.A30fs|LEPROTL1_ENST00000321250.8_Frame_Shift_Ins_p.A91fs	p.A91fs			WXS	Illumina HiSeq	Phase_I	O95214	LERL1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	3	357_358	+			91					E9PHP8|Q9BW48	Frame_Shift_Ins	INS	ENST00000321250.8	37	c.269_270insAAAAAGAAAAATA	CCDS6075.1																																																																																				0.356	LEPROTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375771.2	0			8:29961992
TEX15	56154	broad.mit.edu	37	8	30701885	30701886	+	In_Frame_Ins	INS	-	-	GATTTTAAAGAAAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:30701885_30701886insGATTTTAAAGAAAAA	ENST00000256246.2	-	1	4722_4723	c.4648_4649insTTTTTCTTTAAAATC	c.(4648-4650)gac>gTTTTTCTTTAAAATCac	p.1550_1550D>VFL*NH		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGACTGCGAGTCTTTACTAACT	0.386																																						ENST00000256246.2		NA																	0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4648-4650)gac>gTTTTTCTTTAAAATCac		testis expressed 15																																				SO:0001652	inframe_insertion	56154							g.chr8:30701885_30701886insGATTTTAAAGAAAAA	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4648_4649insTTTTTCTTTAAAATC	8.37:g.30701885_30701886insGATTTTAAAGAAAAA	ENSP00000256246:p.Asp1550delinsValPheLeu*AsnHis	True	False		Somatic	0					p.1550_1550D>VFL*NH	NM_031271.3	NP_112561.2	WXS	Illumina HiSeq	Phase_I	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4722_4723	-			1550						In_Frame_Ins	INS	ENST00000256246.2	37	c.4648_4649insTTTTTCTTTAAAATC	CCDS6080.1																																																																																				0.386	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	0			8:30701885
ADAM9	8754	broad.mit.edu	37	8	38940590	38940591	+	In_Frame_Ins	INS	-	-	GCTTAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:38940590_38940591insGCTTAC	ENST00000487273.2	+	18	2144_2145	c.2066_2067insGCTTAC	c.(2065-2070)aatgaa>aaGCTTACtgaa	p.689_689N>KLT		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	689	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCTACATACAATGGCAAGTAAT	0.441																																						ENST00000487273.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2065-2070)aatgaa>aaGCTTACtgaa		ADAM metallopeptidase domain 9																																				SO:0001652	inframe_insertion	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38940590_38940591insGCTTAC	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	Exception_encountered	8.37:g.38940590_38940591insGCTTAC	ENSP00000419446:p.Asn689delinsLysLeuThr	False	False		Somatic	0					p.689_689N>KLT	NM_003816.2	NP_003807.1	WXS	Illumina HiSeq	Phase_I	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		18	2144_2145	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	689			EGF-like.		B7ZLN7|Q10718|Q8NFM6	In_Frame_Ins	INS	ENST00000487273.2	37	c.2066_2067insGCTTAC	CCDS6112.1																																																																																				0.441	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2	0			8:38940590
C8orf34	116328	broad.mit.edu	37	8	69358644	69358645	+	In_Frame_Ins	INS	-	-	TAATGTACCCACGCAAAG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:69358644_69358645insTAATGTACCCACGCAAAG	ENST00000539993.1	+	3	847_848	c.298_299insTAATGTACCCACGCAAAG	c.(298-300)agt>aTAATGTACCCACGCAAAGgt	p.100_100S>IMYPRKG	C8orf34_ENST00000337103.4_In_Frame_Ins_p.75_75S>IMYPRKG|C8orf34_ENST00000523686.1_In_Frame_Ins_p.100_100S>IMYPRKG|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_In_Frame_Ins_p.186_186S>IMYPRKG|C8orf34_ENST00000348340.2_In_Frame_Ins_p.100_100S>IMYPRKG			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	100										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAAATCAAAAAGTGACCTTGCT	0.332																																						ENST00000337103.4		NA																	0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(223-225)agt>aTAATGTACCCACGCAAAGgt		chromosome 8 open reading frame 34																																				SO:0001652	inframe_insertion	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69358644_69358645insTAATGTACCCACGCAAAG	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	Exception_encountered	8.37:g.69358644_69358645insTAATGTACCCACGCAAAG	ENSP00000438159:p.Ser100delinsIleMetTyrProArgLysGly	True	False		Somatic	0				C8orf34_ENST00000539993.1_In_Frame_Ins_p.100_100S>IMYPRKG|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_In_Frame_Ins_p.186_186S>IMYPRKG|C8orf34_ENST00000348340.2_In_Frame_Ins_p.100_100S>IMYPRKG|C8orf34_ENST00000523686.1_In_Frame_Ins_p.100_100S>IMYPRKG	p.75_75S>IMYPRKG			WXS	Illumina HiSeq	Phase_I	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		2	1815_1816	+			100		K -> N (in a colorectal cancer sample; somatic mutation).			A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	In_Frame_Ins	INS	ENST00000539993.1	37	c.223_224insTAATGTACCCACGCAAAG																																																																																					0.332	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_052958		8:69358644
RP1	6101	broad.mit.edu	37	8	55538238	55538239	+	In_Frame_Ins	INS	-	-	CACTTGACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:55538238_55538239insCACTTGACT	ENST00000220676.1	+	4	1944_1945	c.1796_1797insCACTTGACT	c.(1795-1800)ggtaac>ggCACTTGACTtaac	p.599_600GN>GT*LN		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	599					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAACTTATGGTAACACCAATG	0.366																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1		NA																	0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1795-1800)ggtaac>ggCACTTGACTtaac		retinitis pigmentosa 1 (autosomal dominant)																																				SO:0001652	inframe_insertion	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538238_55538239insCACTTGACT	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		Exception_encountered	8.37:g.55538238_55538239insCACTTGACT	ENSP00000220676:p.Gly599_Asn600insThr*Leu	False	False		Somatic	0					p.599_600GN>GT*LN	NM_006269.1	NP_006260.1	WXS	Illumina HiSeq	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1944_1945	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	599						In_Frame_Ins	INS	ENST00000220676.1	37	c.1796_1797insCACTTGACT	CCDS6160.1																																																																																				0.366	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	0	NM_006269		8:55538238
ATP6V0D2	245972	broad.mit.edu	37	8	87151756	87151757	+	In_Frame_Ins	INS	-	-	ATACATGAGTCTCTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:87151756_87151757insATACATGAGTCTCTT	ENST00000285393.3	+	3	515_516	c.373_374insATACATGAGTCTCTT	c.(373-375)att>aATACATGAGTCTCTTtt	p.125_125I>NT*VSF	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	125					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)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGTGAAAGAAATTCTGGGGAAG	0.426																																						ENST00000285393.3		NA																	0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(373-375)att>aATACATGAGTCTCTTtt		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2																																				SO:0001652	inframe_insertion	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87151756_87151757insATACATGAGTCTCTT	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	Exception_encountered	8.37:g.87151756_87151757insATACATGAGTCTCTT	ENSP00000285393:p.Ile125delinsAsnThr*ValSerPhe	True	False		Somatic	0				CTD-3118D11.2_ENST00000522679.1_RNA	p.125_125I>NT*VSF	NM_152565.1	NP_689778.1	WXS	Illumina HiSeq	Phase_I	Q8N8Y2	VA0D2_HUMAN			3	515_516	+			125						In_Frame_Ins	INS	ENST00000285393.3	37	c.373_374insATACATGAGTCTCTT	CCDS6241.1																																																																																				0.426	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	0	NM_152565		8:87151756
KLF10	7071	broad.mit.edu	37	8	103663560	103663561	+	Frame_Shift_Ins	INS	-	-	ACGAGGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:103663560_103663561insACGAGGA	ENST00000285407.6	-	3	1299_1300	c.999_1000insTCCTCGT	c.(997-1002)gtggtgfs	p.V334fs	KLF10_ENST00000395884.3_Frame_Shift_Ins_p.V323fs	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	334					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TTCGGGCTCACCACCGGAGGCT	0.554																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3		NA																	0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(964-969)gtggtgfs		Kruppel-like factor 10																																				SO:0001589	frameshift_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103663560_103663561insACGAGGA	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.999_1000insTCCTCGT	8.37:g.103663560_103663561insACGAGGA	ENSP00000285407:p.Val334fs	False	False		Somatic	0				KLF10_ENST00000285407.6_Frame_Shift_Ins_p.V334fs	p.V323fs	NM_001032282.2	NP_001027453.1	WXS	Illumina HiSeq	Phase_I	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		3	1868_1869	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		334					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Frame_Shift_Ins	INS	ENST00000285407.6	37	c.966_967insTCCTCGT	CCDS6294.1																																																																																				0.554	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1	0			8:103663560
OXR1	55074	broad.mit.edu	37	8	107726158	107726159	+	Frame_Shift_Ins	INS	-	-	TAAATCTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:107726158_107726159insTAAATCTT	ENST00000442977.2	+	10	2003_2004	c.1904_1905insTAAATCTT	c.(1903-1908)gaggagfs	p.EE635fs	OXR1_ENST00000452423.2_Frame_Shift_Ins_p.EE124fs|OXR1_ENST00000445937.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000517566.2_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000312046.6_Frame_Shift_Ins_p.EE627fs|OXR1_ENST00000531443.1_Frame_Shift_Ins_p.EE634fs	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	635					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGATTGAGGAGTCTGAAA	0.361																																						ENST00000517566.2		NA																	0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1900-1905)gaggagfs		oxidation resistance 1																																				SO:0001589	frameshift_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107726158_107726159insTAAATCTT	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	Exception_encountered	8.37:g.107726158_107726159insTAAATCTT	ENSP00000405424:p.Glu635fs	False	False		Somatic	0				OXR1_ENST00000531443.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000442977.2_Frame_Shift_Ins_p.EE635fs|OXR1_ENST00000452423.2_Frame_Shift_Ins_p.EE124fs|OXR1_ENST00000445937.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000312046.6_Frame_Shift_Ins_p.EE627fs	p.EE634fs	NM_001198533.1	NP_001185462.1	WXS	Illumina HiSeq	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		10	2039_2040	+			635					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Frame_Shift_Ins	INS	ENST00000442977.2	37	c.1901_1902insTAAATCTT	CCDS56548.1																																																																																				0.361	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_181354		8:107726158
COL14A1	7373	broad.mit.edu	37	8	121209115	121209116	+	Frame_Shift_Ins	INS	-	-	AAAAACAGTCCATCTTAATGTCTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:121209115_121209116insAAAAACAGTCCATCTTAATGTCTTTT	ENST00000297848.3	+	6	792_793	c.522_523insAAAAACAGTCCATCTTAATGTCTTTT	c.(523-525)agafs	p.R175fs	COL14A1_ENST00000309791.4_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000537875.1_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Frame_Shift_Ins_p.R175fs	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATTCAACTTCAGACTGGTTCG	0.411																																						ENST00000297848.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(523-525)agafs		collagen, type XIV, alpha 1																																				SO:0001589	frameshift_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121209115_121209116insAAAAACAGTCCATCTTAATGTCTTTT		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	Exception_encountered	8.37:g.121209115_121209116insAAAAACAGTCCATCTTAATGTCTTTT	ENSP00000297848:p.Arg175fs	False	False		Somatic	0				COL14A1_ENST00000309791.4_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000537875.1_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000247781.3_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000432943.2_3'UTR	p.R175fs	NM_021110.1	NP_066933.1	WXS	Illumina HiSeq	Phase_I	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		6	792_793	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		175			VWFA 1.			Frame_Shift_Ins	INS	ENST00000297848.3	37	c.522_523insAAAAACAGTCCATCTTAATGTCTTTT	CCDS34938.1																																																																																				0.411	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	0	NM_021110		8:121209115
TG	7038	broad.mit.edu	37	8	133984913	133984914	+	Frame_Shift_Ins	INS	-	-	TAATAAA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:133984913_133984914insTAATAAA	ENST00000220616.4	+	34	6166_6167	c.6126_6127insTAATAAA	c.(6127-6129)tggfs	p.W2043fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.W1986fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.W413fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.W197fs|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2043					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGAGGAGCCTGGCGCATTTT	0.48																																						ENST00000220616.4		NA																	0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6127-6129)tggfs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133984913_133984914insTAATAAA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	Exception_encountered	8.37:g.133984913_133984914insTAATAAA	ENSP00000220616:p.Trp2043fs	False	False		Somatic	0				TG_ENST00000519543.1_Frame_Shift_Ins_p.W197fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.W1986fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.W413fs|TG_ENST00000522523.1_3'UTR	p.W2043fs	NM_003235.4	NP_003226.4	WXS	Illumina HiSeq	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	34	6166_6167	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2043					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	c.6126_6127insTAATAAA	CCDS34944.1																																																																																				0.480	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	0	NM_003235		8:133984913
PTK2	5747	broad.mit.edu	37	8	141774447	141774448	+	Intron	INS	-	-	AAAAGTTATTGATACTTACTGTCTTTTTAGAGC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:141774447_141774448insAAAAGTTATTGATACTTACTGTCTTTTTAGAGC	ENST00000522684.1	-	15	1407				PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519465.1_In_Frame_Ins_p.1_2MK>MALKRQ*VSITFK|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000520151.1_In_Frame_Ins_p.1_2MK>MALKRQ*VSITFK|PTK2_ENST00000517887.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCTGGTATTTCATATAATTAA	0.327																																						ENST00000519465.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1-6)atgaaa>atgGCTCTAAAAAGACAGTAAGTATCAATAACTTTTaaa		protein tyrosine kinase 2																																				SO:0001627	intron_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141774447_141774448insAAAAGTTATTGATACTTACTGTCTTTTTAGAGC	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1178-58->GCTCTAAAAAGACAGTAAGTATCAATAACTTTT	8.37:g.141774447_141774448insAAAAGTTATTGATACTTACTGTCTTTTTAGAGC		True	False		Somatic	0				PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_In_Frame_Ins_p.1_2MK>MALKRQ*VSITFK|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron	p.1_2MK>MALKRQ*VSITFK			WXS	Illumina HiSeq	Phase_I	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		1	174_175	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	0					B4E2N6|F5H4S4|Q14291|Q9UD85	In_Frame_Ins	INS	ENST00000522684.1	37	c.3_4insGCTCTAAAAAGACAGTAAGTATCAATAACTTTT	CCDS6381.1																																																																																				0.327	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	0	NM_005607		8:141774447
PTK2	5747	broad.mit.edu	37	8	141774449	141774450	+	Intron	INS	-	-	TT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:141774449_141774450insTT	ENST00000522684.1	-	15	1407				PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519465.1_Start_Codon_Ins|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins|PTK2_ENST00000517887.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGGTATTTCATATAATTAAAG	0.327																																						ENST00000519465.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48								protein tyrosine kinase 2																																				SO:0001627	intron_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141774449_141774450insTT	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1178-60->AA	8.37:g.141774449_141774450insTT		False	False		Somatic	1				PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron				WXS	Illumina HiSeq	Phase_I	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		0	172_173	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	NA					B4E2N6|F5H4S4|Q14291|Q9UD85	Translation_Start_Site	INS	ENST00000522684.1	37		CCDS6381.1																																																																																				0.327	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	0	NM_005607		8:141774449
GBP5	115362	broad.mit.edu	37	1	89732190	89732191	+	Frame_Shift_Ins	INS	-	-	TGGATCTCGTG			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:89732190_89732191insTGGATCTCGTG	ENST00000370459.3	-	6	833_834	c.706_707insCACGAGATCCA	c.(706-708)tttfs	p.F236fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.F236fs			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	236	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AGGTAAGTCAAAGATAAAGCAT	0.381																																						ENST00000370459.3		NA																	0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(706-708)tttfs		guanylate binding protein 5																																				SO:0001589	frameshift_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732190_89732191insTGGATCTCGTG	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.706_707insCACGAGATCCA	1.37:g.89732190_89732191insTGGATCTCGTG	ENSP00000359488:p.Phe236fs	True	False		Somatic	0				RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.F236fs|GBP5_ENST00000481145.1_5'UTR	p.F236fs			WXS	Illumina HiSeq	Phase_I	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	6	833_834	-			236					B2RCE1|Q86TM5	Frame_Shift_Ins	INS	ENST00000370459.3	37	c.706_707insCACGAGATCCA	CCDS722.1																																																																																				0.381	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	0	NM_052942		1:89732190
GBP5	115362	broad.mit.edu	37	1	89732192	89732193	+	Frame_Shift_Ins	INS	-	-	TATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:89732192_89732193insTATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT	ENST00000370459.3	-	6	831_832	c.704_705insAGTTTACATTAAATTGAAGGAAAATCCTAAAAATAATA	c.(703-705)atcfs	p.-235fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.-235fs			Q96PP8	GBP5_HUMAN	guanylate binding protein 5							cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTAAGTCAAAGATAAAGCATTT	0.371																																						ENST00000370459.3		NA																	0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(703-705)atcfs		guanylate binding protein 5																																				SO:0001589	frameshift_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732192_89732193insTATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.704_705insAGTTTACATTAAATTGAAGGAAAATCCTAAAAATAATA	1.37:g.89732192_89732193insTATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT	ENSP00000359488:p.Ile235fs	False	False		Somatic	0				RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.-235fs|GBP5_ENST00000481145.1_5'UTR	p.-235fs			WXS	Illumina HiSeq	Phase_I	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	6	831_832	-			NA					B2RCE1|Q86TM5	Frame_Shift_Ins	INS	ENST00000370459.3	37	c.704_705insAGTTTACATTAAATTGAAGGAAAATCCTAAAAATAATA	CCDS722.1																																																																																				0.371	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	0	NM_052942		1:89732192
HFM1	164045	broad.mit.edu	37	1	91778989	91778990	+	Frame_Shift_Ins	INS	-	-	CATTAATAGTATATAGTAGA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:91778989_91778990insCATTAATAGTATATAGTAGA	ENST00000370425.3	-	30	3405_3406	c.3307_3308insTCTACTATATACTATTAATG	c.(3307-3309)caafs	p.Q1103fs	HFM1_ENST00000294696.5_Frame_Shift_Ins_p.Q335fs|HFM1_ENST00000462405.1_De_novo_Start_OutOfFrame|HFM1_ENST00000370424.3_Frame_Shift_Ins_p.Q782fs	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1103					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CATAGTGATTTGATTTCCAAAC	0.317																																						ENST00000462405.1		NA																	0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75								HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91778989_91778990insCATTAATAGTATATAGTAGA	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3307_3308insTCTACTATATACTATTAATG	1.37:g.91778989_91778990insCATTAATAGTATATAGTAGA	ENSP00000359454:p.Gln1103fs	True	False		Somatic	0				HFM1_ENST00000294696.5_Frame_Shift_Ins_p.Q335fs|HFM1_ENST00000370425.3_Frame_Shift_Ins_p.Q1103fs|HFM1_ENST00000370424.3_Frame_Shift_Ins_p.Q782fs				WXS	Illumina HiSeq	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	0	1232_1233	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	NA					B1B0B6|Q8N9Q0	Translation_Start_Site	INS	ENST00000370425.3	37		CCDS30769.2																																																																																				0.317	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	0	NM_001017975		1:91778989
CDC7	8317	broad.mit.edu	37	1	91978733	91978734	+	Frame_Shift_Ins	INS	-	-	AAACTGTAATTCTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:91978733_91978734insAAACTGTAATTCTTTT	ENST00000428239.1	+	7	950_951	c.691_692insAAACTGTAATTCTTTT	c.(691-693)atcfs	p.I231fs	CDC7_ENST00000234626.6_Frame_Shift_Ins_p.I231fs|CDC7_ENST00000430031.2_Frame_Shift_Ins_p.I203fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ATCCCACATAATCACAGGAAAC	0.441																																						ENST00000428239.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(691-693)atcfs		cell division cycle 7																																				SO:0001589	frameshift_variant	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91978733_91978734insAAACTGTAATTCTTTT	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	Exception_encountered	1.37:g.91978733_91978734insAAACTGTAATTCTTTT	ENSP00000393139:p.Ile231fs	False	False		Somatic	0				CDC7_ENST00000430031.2_Frame_Shift_Ins_p.I203fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.I231fs	p.I231fs	NM_001134420.1	NP_001127892.1	WXS	Illumina HiSeq	Phase_I	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	7	950_951	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	231			Protein kinase.		D3DT31|O00558|Q5T5U5	Frame_Shift_Ins	INS	ENST00000428239.1	37	c.691_692insAAACTGTAATTCTTTT	CCDS734.1																																																																																				0.441	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	0	NM_003503		1:91978733
CCDC18	343099	broad.mit.edu	37	1	93659267	93659268	+	In_Frame_Ins	INS	-	-	ATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:93659267_93659268insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	ENST00000343253.7	+	6	1166_1167	c.664_665insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	c.(664-666)gtg>gATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTAtg	p.222_222V>DTLFKTTKEIIPGM	CCDC18_ENST00000338949.4_In_Frame_Ins_p.21_21V>DTLFKTTKEIIPGM|CCDC18_ENST00000401026.3_In_Frame_Ins_p.222_222V>DTLFKTTKEIIPGM|CCDC18_ENST00000557479.1_In_Frame_Ins_p.340_340V>DTLFKTTKEIIPGM|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	222										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAATTAAAGGTGGACTTACTT	0.317																																						ENST00000343253.7		NA																	0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(664-666)gtg>gATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTAtg		coiled-coil domain containing 18																																				SO:0001652	inframe_insertion	343099							g.chr1:93659267_93659268insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	Exception_encountered	1.37:g.93659267_93659268insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	ENSP00000343377:p.Val222delinsAspThrLeuPheLysThrThrLysGluIleIleProGlyMet	False	False		Somatic	0				CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_In_Frame_Ins_p.340_340V>DTLFKTTKEIIPGM|CCDC18_ENST00000401026.3_In_Frame_Ins_p.222_222V>DTLFKTTKEIIPGM|CCDC18_ENST00000338949.4_In_Frame_Ins_p.21_21V>DTLFKTTKEIIPGM	p.222_222V>DTLFKTTKEIIPGM			WXS	Illumina HiSeq	Phase_I	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	6	1166_1167	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	222					Q6ZU17	In_Frame_Ins	INS	ENST00000343253.7	37	c.664_665insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA																																																																																					0.317	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	0	NM_206886		1:93659267
JAK2	3717	broad.mit.edu	37	9	5050796	5050797	+	In_Frame_Ins	INS	-	-	CAAAAATTT	rs41302214	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:5050796_5050797insCAAAAATTT	ENST00000381652.3	+	6	1073_1074	c.579_580insCAAAAATTT	c.(580-582)gat>CAAAAATTTgat	p.193_194insQKF	JAK2_ENST00000544510.1_In_Frame_Ins_p.44_45insQKF|JAK2_ENST00000539801.1_In_Frame_Ins_p.193_194insQKF	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	193	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CCAAAGAAAACGATCAAACCCC	0.356		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(580-582)gat>CAAAAATTTgat		Janus kinase 2																																				SO:0001652	inframe_insertion	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5050796_5050797insCAAAAATTT		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	Exception_encountered	9.37:g.5050796_5050797insCAAAAATTT	ENSP00000371067:p.Asn193_Asp194insGlnLysPhe	False	False		Somatic	0				JAK2_ENST00000539801.1_In_Frame_Ins_p.193_194insQKF|JAK2_ENST00000544510.1_In_Frame_Ins_p.44_45insQKF	p.193_194insQKF	NM_004972.3	NP_004963.1	WXS	Illumina HiSeq	Phase_I	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	6	1073_1074	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	193			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	In_Frame_Ins	INS	ENST00000381652.3	37	c.579_580insCAAAAATTT	CCDS6457.1																																																																																				0.356	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	0			9:5050796
JAK2	3717	broad.mit.edu	37	9	5050797	5050798	+	Frame_Shift_Ins	INS	-	-	AAGGAAATATCTC	rs540747820		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:5050797_5050798insAAGGAAATATCTC	ENST00000381652.3	+	6	1074_1075	c.580_581insAAGGAAATATCTC	c.(580-582)gatfs	p.D194fs	JAK2_ENST00000544510.1_Frame_Shift_Ins_p.D45fs|JAK2_ENST00000539801.1_Frame_Shift_Ins_p.D194fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	194	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAAAGAAAACGATCAAACCCCA	0.356		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(580-582)gatfs		Janus kinase 2																																				SO:0001589	frameshift_variant	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5050797_5050798insAAGGAAATATCTC		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	Exception_encountered	9.37:g.5050797_5050798insAAGGAAATATCTC	ENSP00000371067:p.Asp194fs	False	False		Somatic	0				JAK2_ENST00000539801.1_Frame_Shift_Ins_p.D194fs|JAK2_ENST00000544510.1_Frame_Shift_Ins_p.D45fs	p.D194fs	NM_004972.3	NP_004963.1	WXS	Illumina HiSeq	Phase_I	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	6	1074_1075	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	194			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		O14636|O75297	Frame_Shift_Ins	INS	ENST00000381652.3	37	c.580_581insAAGGAAATATCTC	CCDS6457.1																																																																																				0.356	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	0			9:5050797
PTPRD	5789	broad.mit.edu	37	9	8449812	8449813	+	In_Frame_Ins	INS	-	-	ATTTTACTATTA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:8449812_8449813insATTTTACTATTA	ENST00000381196.4	-	31	4443_4444	c.3900_3901insTAATAGTAAAAT	c.(3898-3903)agaaaa>agaTAATAGTAAAATaaa	p.1300_1301RK>R***NK	PTPRD_ENST00000356435.5_In_Frame_Ins_p.1300_1301RK>R***NK|PTPRD_ENST00000397611.3_In_Frame_Ins_p.890_891RK>R***NK|PTPRD_ENST00000537002.1_In_Frame_Ins_p.890_891RK>R***NK|PTPRD_ENST00000358503.5_In_Frame_Ins_p.1278_1279RK>R***NK|PTPRD_ENST00000355233.5_In_Frame_Ins_p.894_895RK>R***NK|PTPRD_ENST00000397606.3_In_Frame_Ins_p.879_880RK>R***NK|PTPRD_ENST00000540109.1_In_Frame_Ins_p.1300_1301RK>R***NK|PTPRD_ENST00000360074.4_In_Frame_Ins_p.1287_1288RK>R***NK|PTPRD_ENST00000397617.3_In_Frame_Ins_p.879_880RK>R***NK|PTPRD_ENST00000486161.1_In_Frame_Ins_p.893_894RK>R***NK	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1300					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGCTGCTTTTTCTAGAGTCGG	0.421										TSP Lung(15;0.13)																												ENST00000381196.4		NA																	0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3898-3903)agaaaa>agaTAATAGTAAAATaaa		protein tyrosine phosphatase, receptor type, D																																				SO:0001652	inframe_insertion	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8449812_8449813insATTTTACTATTA	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3900_3901insTAATAGTAAAAT	9.37:g.8449812_8449813insATTTTACTATTA	ENSP00000370593:p.Arg1300_Lys1301ins***Asn	True	False	TSP Lung(15;0.13)	Somatic	0				PTPRD_ENST00000540109.1_In_Frame_Ins_p.1300_1301RK>R***NK|PTPRD_ENST00000360074.4_In_Frame_Ins_p.1287_1288RK>R***NK|PTPRD_ENST00000358503.5_In_Frame_Ins_p.1278_1279RK>R***NK|PTPRD_ENST00000486161.1_In_Frame_Ins_p.893_894RK>R***NK|PTPRD_ENST00000356435.5_In_Frame_Ins_p.1300_1301RK>R***NK|PTPRD_ENST00000355233.5_In_Frame_Ins_p.894_895RK>R***NK|PTPRD_ENST00000397606.3_In_Frame_Ins_p.879_880RK>R***NK|PTPRD_ENST00000397611.3_In_Frame_Ins_p.890_891RK>R***NK|PTPRD_ENST00000537002.1_In_Frame_Ins_p.890_891RK>R***NK|PTPRD_ENST00000397617.3_In_Frame_Ins_p.879_880RK>R***NK	p.1300_1301RK>R***NK	NM_002839.3	NP_002830.1	WXS	Illumina HiSeq	Phase_I	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4443_4444	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1300					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	In_Frame_Ins	INS	ENST00000381196.4	37	c.3900_3901insTAATAGTAAAAT	CCDS43786.1																																																																																				0.421	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	0			9:8449812
UBE2R2	54926	broad.mit.edu	37	9	33912085	33912086	+	Frame_Shift_Ins	INS	-	-	ATGAATACCCATATTTACA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:33912085_33912086insATGAATACCCATATTTACA	ENST00000263228.3	+	4	677_678	c.486_487insATGAATACCCATATTTACA	c.(487-489)gaafs	p.E163fs	RP11-176F3.7_ENST00000414426.3_RNA	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	163					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AAGAATATGCTGAAATTATTAG	0.351																																						ENST00000263228.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(487-489)gaafs		ubiquitin-conjugating enzyme E2R 2																																				SO:0001589	frameshift_variant	54926				protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity	g.chr9:33912085_33912086insATGAATACCCATATTTACA	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	Exception_encountered	9.37:g.33912085_33912086insATGAATACCCATATTTACA	ENSP00000263228:p.Glu163fs	True	False		Somatic	0					p.E163fs	NM_017811.3	NP_060281.2	WXS	Illumina HiSeq	Phase_I	Q712K3	UB2R2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)	4	677_678	+			163					D3DRL5|Q9NX64	Frame_Shift_Ins	INS	ENST00000263228.3	37	c.486_487insATGAATACCCATATTTACA	CCDS6546.1																																																																																				0.351	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	0	NM_017811		9:33912085
VPS13A	23230	broad.mit.edu	37	9	79968551	79968552	+	Frame_Shift_Ins	INS	-	-	CATCATA			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:79968551_79968552insCATCATA	ENST00000360280.3	+	54	7906_7907	c.7646_7647insCATCATA	c.(7645-7650)attacafs	p.T2550fs	VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.T2511fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.T2550fs|VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.T2550fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2550					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATAGGCATTACAAGGTTAG	0.307																																						ENST00000360280.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7645-7650)attacafs		vacuolar protein sorting 13 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79968551_79968552insCATCATA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	Exception_encountered	9.37:g.79968551_79968552insCATCATA	ENSP00000353422:p.Thr2550fs	False	False		Somatic	0				VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.T2550fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.T2550fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.T2511fs	p.T2550fs	NM_033305.2	NP_150648.2	WXS	Illumina HiSeq	Phase_I	Q96RL7	VP13A_HUMAN			54	7906_7907	+			2550					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Ins	INS	ENST00000360280.3	37	c.7646_7647insCATCATA	CCDS6655.1																																																																																				0.307	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	NM_015186		9:79968551
BSPRY	54836	broad.mit.edu	37	9	116116618	116116619	+	Splice_Site	INS	-	-	ATTTTCTCCT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:116116618_116116619insATTTTCTCCT	ENST00000374183.4	+	2	339	c.300_300insATTTTCTCCT	c.(301-303)agc>agATTTTCTCCTc	p.S101fs	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	101					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAAGAGCAGTGGTAATTCCTCT	0.525																																						ENST00000374183.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(301-303)agc>agATTTTCTCCTc		B-box and SPRY domain containing																																				SO:0001630	splice_region_variant	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116116618_116116619insATTTTCTCCT	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.300+1->ATTTTCTCCT	9.37:g.116116618_116116619insATTTTCTCCT		False	False		Somatic	0				BSPRY_ENST00000462085.1_3'UTR	p.S101fs	NM_017688.2	NP_060158.2	WXS	Illumina HiSeq	Phase_I	Q5W0U4	BSPRY_HUMAN			2	339	+			101					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Splice_Site	INS	ENST00000374183.4	37	c.300_300insATTTTCTCCT	CCDS43868.1																																																																																				0.525	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	0	NM_017688	Frame_Shift_Ins	9:116116618
ENG	2022	broad.mit.edu	37	9	130588944	130588944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:130588944delC	ENST00000373203.4	-	4	768	c.368delG	c.(367-369)agcfs	p.S123fs	ENG_ENST00000480266.1_5'Flank|ENG_ENST00000344849.3_Frame_Shift_Del_p.S123fs	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	123	Required for interaction with EGL.			SSLVTFQEP -> FQPGHLPRA (in Ref. 5). {ECO:0000305}.	artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGTGACCAGGCTGGAATTCTG	0.597									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(367-369)agcfs		endoglin							49.0	49.0	49.0					9																	130588944		2203	4300	6503	SO:0001589	frameshift_variant	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130588944delC	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.368delG	9.37:g.130588944delC	ENSP00000362299:p.Ser123fs	False	False		Somatic	1				ENG_ENST00000373203.4_Frame_Shift_Del_p.S123fs	p.S123fs			WXS	Illumina HiSeq	Phase_I	P17813	EGLN_HUMAN			4	648	-			123	SSLVTFQEP -> FQPGHLPRA (in Ref. 5).				Q14248|Q14926|Q5T9C0	Frame_Shift_Del	DEL	ENST00000373203.4	37	c.368delG	CCDS48029.1																																																																																				0.597	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1	0			9:130588944
SPTAN1	6709	broad.mit.edu	37	9	131347071	131347072	+	Frame_Shift_Ins	INS	-	-	CATCCCCTTTATGCTAC			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:131347071_131347072insCATCCCCTTTATGCTAC	ENST00000372731.4	+	18	2619_2620	c.2509_2510insCATCCCCTTTATGCTAC	c.(2509-2511)gaafs	p.E837fs	SPTAN1_ENST00000358161.5_Frame_Shift_Ins_p.E837fs|SPTAN1_ENST00000372739.3_Frame_Shift_Ins_p.E837fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	837					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCTGGACATGAACCACGCATC	0.48																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3		NA																	0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(2509-2511)gaafs		spectrin, alpha, non-erythrocytic 1																																				SO:0001589	frameshift_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131347071_131347072insCATCCCCTTTATGCTAC	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	Exception_encountered	9.37:g.131347071_131347072insCATCCCCTTTATGCTAC	ENSP00000361816:p.Glu837fs	False	False		Somatic	0				SPTAN1_ENST00000358161.5_Frame_Shift_Ins_p.E837fs|SPTAN1_ENST00000372731.4_Frame_Shift_Ins_p.E837fs	p.E837fs	NM_001130438.2	NP_001123910.1	WXS	Illumina HiSeq	Phase_I	Q13813	SPTA2_HUMAN			18	2619_2620	+			837					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Ins	INS	ENST00000372731.4	37	c.2509_2510insCATCCCCTTTATGCTAC	CCDS6905.1																																																																																				0.480	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	0	NM_003127		9:131347071
SLC39A12	221074	broad.mit.edu	37	10	18266903	18266904	+	Frame_Shift_Ins	INS	-	-	CATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:18266903_18266904insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	ENST00000377369.2	+	5	1097_1098	c.824_825insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	c.(823-828)caaaggfs	p.QR275fs	SLC39A12_ENST00000377371.3_Frame_Shift_Ins_p.QR275fs|SLC39A12_ENST00000539911.1_Frame_Shift_Ins_p.QR141fs|SLC39A12_ENST00000377374.4_Frame_Shift_Ins_p.QR275fs	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	275					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATCAATTTCAAAGGAAACAAA	0.371																																						ENST00000377371.3		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(823-828)caaaggfs		solute carrier family 39 (zinc transporter), member 12																																				SO:0001589	frameshift_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18266903_18266904insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	Exception_encountered	10.37:g.18266903_18266904insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	ENSP00000366586:p.Gln275fs	True	False		Somatic	0				SLC39A12_ENST00000377374.4_Frame_Shift_Ins_p.QR275fs|SLC39A12_ENST00000539911.1_Frame_Shift_Ins_p.QR141fs|SLC39A12_ENST00000377369.2_Frame_Shift_Ins_p.QR275fs	p.QR275fs			WXS	Illumina HiSeq	Phase_I	Q504Y0	S39AC_HUMAN			5	1022_1023	+			275					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Frame_Shift_Ins	INS	ENST00000377369.2	37	c.824_825insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	CCDS44362.1																																																																																				0.371	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_152725		10:18266903
HOXA3	3200	broad.mit.edu	37	7	27148069	27148069	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:27148069C>T	ENST00000396352.4	-	3	996	c.797G>A	c.(796-798)cGc>cAc	p.R266H	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	266					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						CACGGGGCTGCGACTTGGAGA	0.602																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4		NA																	0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(796-798)cGc>cAc		homeobox A3							116.0	113.0	114.0					7																	27148069		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148069C>T		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.797G>A	7.37:g.27148069C>T	ENSP00000379640:p.Arg266His	False	False		Somatic	0				HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA-AS2_ENST00000518088.1_RNA	p.R266H	NM_030661.4	NP_109377.1	WXS	Illumina HiSeq	Phase_I	O43365	HXA3_HUMAN			3	996	-			266					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.797G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964113	0.53507	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.87256	-2.23;-2.23	5.56	5.56	0.83823	.	0.053164	0.64402	D	0.000001	D	0.84097	0.5397	L	0.52206	1.635	0.53688	D	0.999979	P	0.38300	0.626	B	0.32022	0.139	D	0.84641	0.0695	10	0.49607	T	0.09	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	266	O43365	HXA3_HUMAN	H	266;266;108	ENSP00000379640:R266H;ENSP00000324884:R266H	ENSP00000324884:R266H	R	-	2	0	HOXA3	27114594	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.592000	0.53993	2.620000	0.88729	0.655000	0.94253	CGC		0.602	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2	0			7:27148069
TNXB	7148	broad.mit.edu	37	6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662																																						ENST00000375244.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4249-4251)cGt>cAt		tenascin XB							105.0	120.0	115.0					6																	32046935		1305	2558	3863	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046935C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4250G>A	6.37:g.32046935C>T	ENSP00000364393:p.Arg1417His	False	False		Somatic	0				TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H	p.R1417H			WXS	Illumina HiSeq	Phase_I	P22105	TENX_HUMAN			11	4451	-			1504			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4250G>A		.	.	.	.	.	.	.	.	.	.	C	13.46	2.244413	0.39697	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	5.52	4.64	0.57946	.	0.000000	0.41396	D	0.000889	T	0.34978	0.0916	M	0.67397	2.05	0.29740	N	0.837148	P	0.50617	0.937	P	0.47645	0.553	T	0.22382	-1.0218	10	0.13108	T	0.6	.	9.6088	0.39650	0.1602:0.6853:0.1545:0.0	.	1417	P22105-3	.	H	1417	ENSP00000364393:R1417H;ENSP00000364396:R1417H	ENSP00000364393:R1417H	R	-	2	0	TNXB	32154913	0.459000	0.25768	0.972000	0.41901	0.048000	0.14542	0.667000	0.25112	1.459000	0.47892	0.591000	0.81541	CGT		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	NM_019105		6:32046935
L3HYPDH	112849	broad.mit.edu	37	14	59946013	59946013	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:59946013C>T	ENST00000247194.4	-	2	678	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.G18S	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	189					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TAAAATGCACCGCCATATGCA	0.423																																						ENST00000247194.4		NA																	0					NA						c.(565-567)Ggt>Agt		L-3-hydroxyproline dehydratase (trans-)							92.0	85.0	87.0					14																	59946013		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59946013C>T	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.565G>A	14.37:g.59946013C>T	ENSP00000247194:p.Gly189Ser	False	False		Somatic	0				RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.G18S	p.G189S	NM_144581.1	NP_653182.1	WXS	Illumina HiSeq	Phase_I					2	678	-			NA					Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.565G>A	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596368	0.96602	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.71341	-0.56;-0.56;-0.56	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91456	0.5185	10	0.87932	D	0	.	19.1044	0.93287	0.0:1.0:0.0:0.0	.	189	Q96EM0	PRCM_HUMAN	S	189;18;18	ENSP00000247194:G189S;ENSP00000431608:G18S;ENSP00000423874:G18S	ENSP00000247194:G189S	G	-	1	0	C14orf149	59015766	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.254000	0.78329	2.505000	0.84491	0.467000	0.42956	GGT		0.423	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	0	NM_144581		14:59946013
TRGV4	6977	broad.mit.edu	37	7	38393523	38393523	+	RNA	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:38393523G>A	ENST00000390345.2	-	0	480									T cell receptor gamma variable 4																		AGTGGATGTAGCCGGTACTTC	0.512																																						ENST00000390345.2		NA																	0					NA															104.0	91.0	95.0					7																	38393523		1848	3930	5778			0							g.chr7:38393523G>A	X15272		7p14	2013-12-13			ENSG00000211698	ENSG00000211698		"""T cell receptors / TRG locus"""	12289	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V4"""			TCRGV4		2969332	Standard	NG_001336		Approved	V1S4			OTTHUMG00000155099		7.37:g.38393523G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	480	-			NA						RNA	SNP	ENST00000390345.2	37																																																																																						0.512	TRGV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338400.4	0	NG_001336		7:38393523
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
CENPT	80152	broad.mit.edu	37	16	67863789	67863789	+	Silent	SNP	G	G	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67863789G>C	ENST00000562787.1	-	12	1613	c.1065C>G	c.(1063-1065)ccC>ccG	p.P355P	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000219172.3_Silent_p.P355P|CENPT_ENST00000562947.1_5'Flank	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	355	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P355P(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTACCCTGCTGGGTCCTTGTG	0.547																																						ENST00000562787.1		NA																	1	Substitution - coding silent(1)	p.P355P(1)	lung(1)	NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1063-1065)ccC>ccG		centromere protein T							272.0	282.0	279.0					16																	67863789		2124	4247	6371	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863789G>C	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1065C>G	16.37:g.67863789G>C		True	False		Somatic	0				CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.P355P	p.P355P	NM_025082.3	NP_079358.3	WXS	Illumina HiSeq	Phase_I	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	12	1613	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	355					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1065C>G	CCDS42182.1																																																																																				0.547	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	0	NM_025082		16:67863789
SYT3	84258	broad.mit.edu	37	19	51133283	51133283	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:51133283G>A	ENST00000338916.4	-	3	1453	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000593901.1_Silent_p.L274L|SYT3_ENST00000544769.1_Silent_p.L274L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	274					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCTGGTACAGCTCTGGCTTA	0.677																																						ENST00000338916.4		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(820-822)Ctg>Ttg		synaptotagmin III							70.0	72.0	71.0					19																	51133283		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133283G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.820C>T	19.37:g.51133283G>A		False	False		Somatic	0				SYT3_ENST00000544769.1_Silent_p.L274L|SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000593901.1_Silent_p.L274L	p.L274L	NM_032298.2	NP_115674.1	WXS	Illumina HiSeq	Phase_I	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1453	-		all_neural(266;0.131)	274					Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.820C>T	CCDS12798.1																																																																																				0.677	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	0	NM_032298		19:51133283
PHACTR1	221692	broad.mit.edu	37	6	13230385	13230385	+	Missense_Mutation	SNP	C	C	T	rs370759003		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:13230385C>T	ENST00000379350.1	+	9	1480	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	451					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)			GGATGAGGAGCGGCTGGAGCT	0.587																																						ENST00000379350.1		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1351-1353)Cgg>Tgg		phosphatase and actin regulator 1		C	TRP/ARG,TRP/ARG	0,4100		0,0,2050	31.0	32.0	32.0		1351,1351	-1.6	0.8	6		32	1,8399		0,1,4199	no	missense,missense	PHACTR1	NM_030948.2,NM_001242648.1	101,101	0,1,6249	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	451/581,451/581	13230385	1,12499	2050	4200	6250	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13230385C>T	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.1351C>T	6.37:g.13230385C>T	ENSP00000368655:p.Arg451Trp	False	False		Somatic	0				PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron	p.R451W			WXS	Illumina HiSeq	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		9	1480	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	451					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1351C>T		.	.	.	.	.	.	.	.	.	.	C	19.87	3.906594	0.72868	0.0	1.19E-4	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	T;T;T	0.39406	1.08;1.14;1.23	5.47	-1.6	0.08426	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.47716	1.5	0.80722	D	1	D;B;D	0.89917	1.0;0.274;1.0	D;B;D	0.83275	0.994;0.053;0.996	T	0.53774	-0.8391	10	0.59425	D	0.04	-14.544	17.6799	0.88240	0.3077:0.6923:0.0:0.0	.	520;451;451	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	W	451;451;520;306	ENSP00000368655:R451W;ENSP00000329880:R451W;ENSP00000397669:R306W	ENSP00000329880:R451W	R	+	1	2	PHACTR1	13338364	0.983000	0.35010	0.846000	0.33378	0.987000	0.75469	0.326000	0.19646	-0.430000	0.07318	0.557000	0.71058	CGG		0.587	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	0	XM_166420		6:13230385
USH2A	7399	broad.mit.edu	37	1	216498693	216498693	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:216498693T>C	ENST00000307340.3	-	6	1483	c.1097A>G	c.(1096-1098)aAt>aGt	p.N366S	USH2A_ENST00000366942.3_Missense_Mutation_p.N366S|USH2A_ENST00000366943.2_Missense_Mutation_p.N366S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	366	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTCCTTGATTAAGCTGTGT	0.363										HNSCC(13;0.011)																												ENST00000366943.2		NA																	0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1096-1098)aAt>aGt		Usher syndrome 2A (autosomal recessive, mild)							116.0	104.0	108.0					1																	216498693		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498693T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1097A>G	1.37:g.216498693T>C	ENSP00000305941:p.Asn366Ser	False	False	HNSCC(13;0.011)	Somatic	0				USH2A_ENST00000366942.3_Missense_Mutation_p.N366S|USH2A_ENST00000307340.3_Missense_Mutation_p.N366S	p.N366S			WXS	Illumina HiSeq	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1483	-			366			Laminin N-terminal.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1097A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013265	0.19277	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19806	2.55;2.54;2.12	5.36	4.23	0.50019	Laminin, N-terminal (3);	0.963531	0.08481	N	0.939588	T	0.19485	0.0468	L	0.45228	1.405	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.002	T	0.35773	-0.9775	10	0.15066	T	0.55	.	11.0938	0.48132	0.0:0.0725:0.0:0.9275	.	366;366	O75445-2;O75445	.;USH2A_HUMAN	S	366	ENSP00000305941:N366S;ENSP00000355910:N366S;ENSP00000355909:N366S	ENSP00000305941:N366S	N	-	2	0	USH2A	214565316	0.222000	0.23652	0.040000	0.18447	0.877000	0.50540	3.185000	0.50934	0.880000	0.35969	0.528000	0.53228	AAT		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	NM_007123		1:216498693
L1CAM	3897	broad.mit.edu	37	X	153135631	153135631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:153135631G>A	ENST00000370060.1	-	9	1060	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	291	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGTTCTGGTAGGTGACA	0.642																																						ENST00000370060.1		NA																	0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(871-873)Cag>Tag		L1 cell adhesion molecule							189.0	170.0	176.0					X																	153135631		2203	4300	6503	SO:0001587	stop_gained	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135631G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.871C>T	X.37:g.153135631G>A	ENSP00000359077:p.Gln291*	False	False		Somatic	0				L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*	p.Q291*	NM_001278116.1	NP_001265045.1	WXS	Illumina HiSeq	Phase_I	P32004	L1CAM_HUMAN			9	1060	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		291			Ig-like C2-type 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Nonsense_Mutation	SNP	ENST00000370060.1	37	c.871C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	37	6.085530	0.97271	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	.	.	.	5.15	4.22	0.49857	.	0.222293	0.31210	N	0.008045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.2623	0.54658	0.0:0.2934:0.7066:0.0	.	.	.	.	X	291;293;291;293;286;286;291	.	ENSP00000355380:Q291X	Q	-	1	0	L1CAM	152788825	0.838000	0.29461	1.000000	0.80357	0.908000	0.53690	0.530000	0.23036	2.283000	0.76528	0.529000	0.55759	CAG		0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	0	NM_024003		X:153135631
NAALAD2	10003	broad.mit.edu	37	11	89891358	89891358	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:89891358G>A	ENST00000534061.1	+	7	1072	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313																																						ENST00000534061.1		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(841-843)cGa>cAa		N-acetylated alpha-linked acidic dipeptidase 2							115.0	120.0	118.0					11																	89891358		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89891358G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.842G>A	11.37:g.89891358G>A	ENSP00000432481:p.Arg281Gln	True	False		Somatic	0				NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	p.R281Q	NM_005467.3	NP_005458.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q0	NALD2_HUMAN			7	1072	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	281			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.842G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285494	0.40394	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.41758	0.99;0.99	5.13	3.99	0.46301	.	0.797499	0.11731	N	0.534986	T	0.21801	0.0525	N	0.05414	-0.055	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05084	-1.0907	9	.	.	.	0.2934	8.4175	0.32681	0.8469:0.0:0.1531:0.0	.	281;281	Q9Y3Q0;Q8IUX3	NALD2_HUMAN;.	Q	281	ENSP00000432481:R281Q;ENSP00000320083:R281Q	.	R	+	2	0	NAALAD2	89531006	0.968000	0.33430	0.443000	0.26883	0.982000	0.71751	3.300000	0.51834	0.919000	0.36945	-0.341000	0.08007	CGA		0.313	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	0	NM_005467		11:89891358
RAB11FIP5	26056	broad.mit.edu	37	2	73302662	73302662	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:73302662C>G	ENST00000258098.6	-	5	2189	c.1949G>C	c.(1948-1950)gGc>gCc	p.G650A	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	650					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)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTTGGGGGGGCCCGGGGGGAT	0.637																																						ENST00000258098.6		NA																	0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1948-1950)gGc>gCc		RAB11 family interacting protein 5 (class I)							38.0	46.0	43.0					2																	73302662		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73302662C>G	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.1949G>C	2.37:g.73302662C>G	ENSP00000258098:p.Gly650Ala	True	False		Somatic	0				RAB11FIP5_ENST00000493523.2_5'UTR	p.G650A	NM_015470.2	NP_056285.1	WXS	Illumina HiSeq	Phase_I	Q9BXF6	RFIP5_HUMAN			5	2189	-			650					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1949G>C	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.263926	0.01433	.	.	ENSG00000135631	ENST00000258098	T	0.42900	0.96	4.38	-6.1	0.02138	.	0.606002	0.15908	N	0.238756	T	0.19287	0.0463	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05683	-1.0870	10	0.38643	T	0.18	0.2415	2.0902	0.03655	0.0996:0.3026:0.2525:0.3452	.	650	Q9BXF6	RFIP5_HUMAN	A	650	ENSP00000258098:G650A	ENSP00000258098:G650A	G	-	2	0	RAB11FIP5	73156170	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.912000	0.04046	-1.557000	0.01692	-1.090000	0.02178	GGC		0.637	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	0	NM_015470		2:73302662
TRPM6	140803	broad.mit.edu	37	9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:77423011C>T	ENST00000360774.1	-	14	1814	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	526					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388																																						ENST00000451710.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1576-1578)cGc>cAc		transient receptor potential cation channel, subfamily M, member 6							256.0	243.0	247.0					9																	77423011		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77423011C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1577G>A	9.37:g.77423011C>T	ENSP00000354006:p.Arg526His	False	False		Somatic	0				TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000360774.1_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H	p.R526H			WXS	Illumina HiSeq	Phase_I	Q9BX84	TRPM6_HUMAN			14	1814	-			526					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1577G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924348	0.92319	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T	0.75704	-0.96;-0.96;0.42;-0.96;-0.96;-0.96	5.74	5.74	0.90152	.	0.155279	0.64402	D	0.000012	D	0.84365	0.5456	M	0.73372	2.23	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;0.993	D;D;P	0.68765	0.917;0.96;0.805	D	0.85613	0.1259	10	0.87932	D	0	.	14.1263	0.65222	0.0:0.9285:0.0:0.0715	.	526;526;521	Q9BX84-5;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	H	526;526;526;521;521;526;189;189	ENSP00000354006:R526H;ENSP00000407341:R526H;ENSP00000366068:R526H;ENSP00000396672:R521H;ENSP00000354962:R521H;ENSP00000366060:R526H	ENSP00000309693:R189H	R	-	2	0	TRPM6	76612831	0.999000	0.42202	0.995000	0.50966	0.988000	0.76386	4.079000	0.57613	2.715000	0.92844	0.655000	0.94253	CGC		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	0	NM_017662		9:77423011
PCDHA8	56140	broad.mit.edu	37	5	140222482	140222482	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140222482G>A	ENST00000531613.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTAGA	0.677																																						ENST00000531613.1		NA																	0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1576-1578)Gag>Aag									67.0	79.0	75.0					5																	140222482		2196	4265	6461	SO:0001583	missense	0							g.chr5:140222482G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1576G>A	5.37:g.140222482G>A	ENSP00000434655:p.Glu526Lys	False	False		Somatic	0				PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	p.E526K	NM_018911.2	NP_061734.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1576	+			NA					B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1576G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173878	0.78452	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.72394	-0.65;-0.65	3.72	3.72	0.42706	Cadherin (5);Cadherin-like (1);	0.000000	0.37053	U	0.002270	D	0.90614	0.7057	H	0.99169	4.455	0.43622	D	0.996001	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94761	0.7936	10	0.87932	D	0	.	15.5151	0.75818	0.0:0.0:1.0:0.0	.	526;526	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	526	ENSP00000434655:E526K;ENSP00000367363:E526K	ENSP00000367363:E526K	E	+	1	0	PCDHA8	140202666	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	9.188000	0.94921	1.790000	0.52503	0.306000	0.20318	GAG		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	0	NM_018911		5:140222482
NCKAP5	344148	broad.mit.edu	37	2	133542683	133542683	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:133542683G>A	ENST00000409261.1	-	14	2074	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G	NCKAP5_ENST00000317721.6_Silent_p.G567G|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	567										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATGGCCTTGGCCCTGTGGGC	0.542																																						ENST00000409261.1		NA																	0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1699-1701)ggC>ggT		NCK-associated protein 5							77.0	79.0	78.0					2																	133542683		1994	4158	6152	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133542683G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1701C>T	2.37:g.133542683G>A		True	False		Somatic	0				NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.G567G	p.G567G	NM_207363.2	NP_997246.2	WXS	Illumina HiSeq	Phase_I	O14513	NCKP5_HUMAN			14	2074	-			567					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.1701C>T	CCDS46418.1																																																																																				0.542	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	0	NM_207481		2:133542683
TP53	7157	broad.mit.edu	37	17	7578525	7578525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:7578525G>T	ENST00000269305.4	-	5	594	c.405C>A	c.(403-405)tgC>tgA	p.C135*	TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCCAGTTGGCAAAACATCT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		68	Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	urinary_tract(11)|lung(8)|breast(7)|central_nervous_system(6)|oesophagus(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|skin(2)|prostate(2)|thyroid(1)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(403-405)tgC>tgA	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578525		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578525G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.405C>A	17.37:g.7578525G>T	ENSP00000269305:p.Cys135*	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C135*	p.C135*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	537	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.405C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678815	0.88542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.815	10.0222	0.42051	0.1647:0.0:0.8353:0.0	.	.	.	.	X	135;135;135;135;135;135;124;42;3;42;3;135	.	ENSP00000269305:C135X	C	-	3	2	TP53	7519250	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.645000	0.24782	0.798000	0.33994	0.655000	0.94253	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578525
KCNH1	3756	broad.mit.edu	37	1	211256132	211256132	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:211256132C>T	ENST00000271751.4	-	5	575	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R183H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	183					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCTGCCAGGCGGGAGTGCTT	0.547																																						ENST00000367007.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(547-549)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 1							131.0	112.0	118.0					1																	211256132		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211256132C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.548G>A	1.37:g.211256132C>T	ENSP00000271751:p.Arg183His	True	False		Somatic	0				KCNH1_ENST00000271751.4_Missense_Mutation_p.R183H	p.R183H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	WXS	Illumina HiSeq	Phase_I	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	5	717	-			183					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.548G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564274	0.65651	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98958	-5.21;-5.27	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	L	0.41710	1.295	0.80722	D	1	B;B	0.15141	0.008;0.012	B;B	0.14023	0.006;0.01	D	0.94651	0.7839	10	0.39692	T	0.17	.	17.6243	0.88090	0.0:1.0:0.0:0.0	.	183;183	Q14CL3;O95259	.;KCNH1_HUMAN	H	183	ENSP00000271751:R183H;ENSP00000355974:R183H	ENSP00000271751:R183H	R	-	2	0	KCNH1	209322755	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.383000	0.79741	2.477000	0.83638	0.561000	0.74099	CGC		0.547	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	0	NM_002238		1:211256132
CTSG	1511	broad.mit.edu	37	14	25043947	25043947	+	Silent	SNP	C	C	T	rs533433194		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532																																						ENST00000216336.2		NA																	1	Substitution - coding silent(1)	p.A91A(1)	urinary_tract(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(271-273)gcG>gcA		cathepsin G							211.0	169.0	183.0					14																	25043947		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043947C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.273G>A	14.37:g.25043947C>T		True	False		Somatic	0					p.A91A	NM_001911.2	NP_001902.1	WXS	Illumina HiSeq	Phase_I	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	309	-			91			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.273G>A	CCDS9631.1																																																																																				0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	0	NM_001911		14:25043947
IFNL1	282618	broad.mit.edu	37	19	39787112	39787112	+	Silent	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:39787112C>T	ENST00000333625.2	+	1	148	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	17					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										TAGGCTTGGCCGTGGCAGGCC	0.587																																						ENST00000333625.2		NA																	0					NA						c.(49-51)gcC>gcT		interferon, lambda 1							98.0	88.0	91.0					19																	39787112		2203	4300	6503	SO:0001819	synonymous_variant	282618							g.chr19:39787112C>T	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"""Interferons"""	18363	protein-coding gene	gene with protein product		607403	"""interleukin 29"", ""interleukin 29 (interferon, lambda 1)"""	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.51C>T	19.37:g.39787112C>T		False	False		Somatic	0					p.A17A	NM_172140.1	NP_742152.1	WXS	Illumina HiSeq	Phase_I					1	148	+			NA					A0AV25|Q17R34	Silent	SNP	ENST00000333625.2	37	c.51C>T	CCDS12531.1																																																																																				0.587	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	0	NM_172140		19:39787112
TTN	7273	broad.mit.edu	37	2	179621444	179621444	+	Intron	SNP	T	T	C	rs370496599		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179621444T>C	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T3587A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TCCTCCTTTGTGAAAGAGGAA	0.403																																						ENST00000589042.1		NA																	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.(10759-10761)Aca>Gca		titin							77.0	74.0	75.0					2																	179621444		1891	4112	6003	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621444T>C	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.10303+2266A>G	2.37:g.179621444T>C		False	False		Somatic	0				TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN_ENST00000591111.1_Intron	p.T3587A	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10983	-			3273					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.10759A>G		.	.	.	.	.	.	.	.	.	.	T	12.01	1.808778	0.31961	.	.	ENSG00000155657	ENST00000342175	T	0.61392	0.11	5.8	4.62	0.57501	.	.	.	.	.	T	0.46639	0.1403	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44498	-0.9324	8	0.87932	D	0	.	6.238	0.20774	0.1425:0.0743:0.0:0.7832	.	3416	E7ET18	.	A	3416	ENSP00000340554:T3416A	ENSP00000340554:T3416A	T	-	1	0	TTN	179329689	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	1.923000	0.40055	0.993000	0.38866	0.533000	0.62120	ACA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179621444
OR51F2	119694	broad.mit.edu	37	11	4843497	4843497	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:4843497T>G	ENST00000322110.5	+	1	947	c.882T>G	c.(880-882)ttT>ttG	p.F294L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAATGTCTTTCTGCTAATCC	0.423																																						ENST00000322110.5		NA																	0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(880-882)ttT>ttG		olfactory receptor, family 51, subfamily F, member 2							235.0	189.0	205.0					11																	4843497		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843497T>G	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.882T>G	11.37:g.4843497T>G	ENSP00000323952:p.Phe294Leu	True	False		Somatic	0				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.F294L	NM_001004753.1	NP_001004753.1	WXS	Illumina HiSeq	Phase_I	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	947	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	294					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.882T>G	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739947	0.49045	.	.	ENSG00000176925	ENST00000322110	T	0.00036	8.86	4.71	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.179185	0.26684	U	0.023031	T	0.00210	0.0006	L	0.48642	1.525	0.09310	N	0.999996	P	0.43287	0.802	P	0.47251	0.542	T	0.46527	-0.9185	10	0.87932	D	0	.	11.1978	0.48724	0.0:0.907:0.0:0.093	.	294	Q8NH61	O51F2_HUMAN	L	294	ENSP00000323952:F294L	ENSP00000323952:F294L	F	+	3	2	OR51F2	4800073	0.000000	0.05858	0.928000	0.36995	0.619000	0.37552	-0.058000	0.11750	1.312000	0.45043	-0.366000	0.07423	TTT		0.423	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	0	NM_001004753		11:4843497
MPO	4353	broad.mit.edu	37	17	56356676	56356676	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:56356676G>A	ENST00000225275.3	-	5	836	c.660C>T	c.(658-660)aaC>aaT	p.N220N	MPO_ENST00000340482.3_Silent_p.N252N|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	220					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCGGGAAGCCGTTGCGCTTGA	0.731																																						ENST00000340482.3		NA																	0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(754-756)aaC>aaT		myeloperoxidase	Cefdinir(DB00535)						8.0	12.0	10.0					17																	56356676		2124	4168	6292	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56356676G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.660C>T	17.37:g.56356676G>A		False	False		Somatic	0				MPO_ENST00000225275.3_Silent_p.N220N	p.N252N			WXS	Illumina HiSeq	Phase_I	P05164	PERM_HUMAN			4	932	-			220					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.756C>T	CCDS11604.1																																																																																				0.731	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1	0			17:56356676
ZC3H11A	9877	broad.mit.edu	37	1	203798664	203798664	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203798664G>T	ENST00000545588.1	+	5	4211	c.384G>T	c.(382-384)caG>caT	p.Q128H	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	128					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTCTGTCCAGTCCAATCCTT	0.478																																						ENST00000545588.1		NA																	0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(382-384)caG>caT		zinc finger CCCH-type containing 11A							81.0	80.0	81.0					1																	203798664		2203	4297	6500	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203798664G>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.384G>T	1.37:g.203798664G>T	ENSP00000438527:p.Gln128His	True	False		Somatic	0				ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H	p.Q128H	NM_001271675.1	NP_001258604.1	WXS	Illumina HiSeq	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	4211	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		128					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.384G>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819026	0.90873	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.87	5.87	0.94306	.	0.238543	0.43416	D	0.000563	T	0.65460	0.2693	L	0.55481	1.735	0.47737	D	0.999509	D	0.89917	1.0	D	0.78314	0.991	T	0.63800	-0.6555	10	0.59425	D	0.04	-26.9465	17.4969	0.87720	0.0:0.0:1.0:0.0	.	128	O75152	ZC11A_HUMAN	H	128;128;74;128;128;128;128	ENSP00000356183:Q128H;ENSP00000356181:Q128H;ENSP00000333253:Q128H;ENSP00000438527:Q128H;ENSP00000356179:Q128H	ENSP00000333253:Q128H	Q	+	3	2	ZC3H11A	202065287	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	2.941000	0.99782	0.655000	0.94253	CAG		0.478	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	0	NM_014827		1:203798664
TLN2	83660	broad.mit.edu	37	15	62993388	62993388	+	Silent	SNP	G	G	A			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:62993388G>A	ENST00000561311.1	+	16	1901	c.1671G>A	c.(1669-1671)acG>acA	p.T557T	TLN2_ENST00000306829.6_Silent_p.T557T			Q9Y4G6	TLN2_HUMAN	talin 2	557					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGCCGGAACGGCTTCAGTTG	0.418																																						ENST00000561311.1		NA																	0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1669-1671)acG>acA		talin 2							81.0	69.0	73.0					15																	62993388		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62993388G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1671G>A	15.37:g.62993388G>A		False	False		Somatic	0				TLN2_ENST00000306829.6_Silent_p.T557T	p.T557T			WXS	Illumina HiSeq	Phase_I	Q9Y4G6	TLN2_HUMAN			16	1901	+			557					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.1671G>A	CCDS32261.1																																																																																				0.418	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	0			15:62993388
CPEB4	80315	broad.mit.edu	37	5	173337529	173337529	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:173337529C>T	ENST00000265085.5	+	2	2583	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368																																						ENST00000265085.5		NA																	0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1129-1131)Cgc>Tgc		cytoplasmic polyadenylation element binding protein 4							98.0	103.0	101.0					5																	173337529		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173337529C>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1129C>T	5.37:g.173337529C>T	ENSP00000265085:p.Arg377Cys	False	False		Somatic	0				CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C	p.R377C	NM_030627.2	NP_085130.2	WXS	Illumina HiSeq	Phase_I	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	2583	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	377					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1129C>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923383	0.92319	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.61859	0.24;0.09;0.2;0.07	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71870	0.943;0.975;0.974;0.962	T	0.76217	-0.3040	10	0.87932	D	0	-13.1041	20.6593	0.99626	0.0:1.0:0.0:0.0	.	377;377;377;377	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	C	377	ENSP00000265085:R377C;ENSP00000429092:R377C;ENSP00000334533:R377C;ENSP00000429048:R377C	ENSP00000265085:R377C	R	+	1	0	CPEB4	173270135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.832000	0.69337	2.885000	0.99019	0.655000	0.94253	CGC		0.368	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	0	NM_030627		5:173337529
OTOGL	283310	broad.mit.edu	37	12	80632702	80632702	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:80632702G>T	ENST00000547103.1	+	9	868	c.862G>T	c.(862-864)Gta>Tta	p.V288L	OTOGL_ENST00000458043.2_Missense_Mutation_p.V288L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	288	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACCAAATGTGTACTCACACC	0.443																																						ENST00000458043.2		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(862-864)Gta>Tta		otogelin-like							92.0	95.0	94.0					12																	80632702		1936	4132	6068	SO:0001583	missense	283310							g.chr12:80632702G>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.862G>T	12.37:g.80632702G>T	ENSP00000447211:p.Val288Leu	False	False		Somatic	0				OTOGL_ENST00000547103.1_Missense_Mutation_p.V288L	p.V288L	NM_173591.3	NP_775862.3	WXS	Illumina HiSeq	Phase_I					9	868	+			NA					F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.862G>T		.	.	.	.	.	.	.	.	.	.	G	4.303	0.055553	0.08291	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.15256	2.44;2.44	5.24	2.39	0.29439	.	.	.	.	.	T	0.10121	0.0248	N	0.25485	0.75	0.28364	N	0.920332	.	.	.	.	.	.	T	0.32402	-0.9908	7	0.07644	T	0.81	.	7.3855	0.26880	0.2065:0.0:0.6736:0.1199	.	.	.	.	L	288	ENSP00000447211:V288L;ENSP00000400895:V288L	ENSP00000400895:V288L	V	+	1	0	OTOGL	79156833	1.000000	0.71417	0.984000	0.44739	0.608000	0.37181	1.249000	0.32839	0.727000	0.32360	-0.229000	0.12294	GTA		0.443	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	0	NM_173591		12:80632702
LVRN	206338	broad.mit.edu	37	5	115327959	115327959	+	Silent	SNP	C	C	T	rs376904306		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:115327959C>T	ENST00000357872.4	+	5	1369	c.1245C>T	c.(1243-1245)caC>caT	p.H415H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		415						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TTGTCTCCCACGAGATTGGAC	0.388																																						ENST00000357872.4		NA																	0					NA						c.(1243-1245)caC>caT				C		1,4403	2.1+/-5.4	0,1,2201	128.0	134.0	132.0		1245	-4.2	0.9	5		132	0,8600		0,0,4300	no	coding-synonymous	AQPEP	NM_173800.4		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		415/991	115327959	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115327959C>T																												ENST00000357872.4:c.1245C>T	5.37:g.115327959C>T		False	False		Somatic	0				AQPEP_ENST00000395528.2_5'UTR	p.H415H	NM_173800.4	NP_776161.3	WXS	Illumina HiSeq	Phase_I	Q6Q4G3	AMPQ_HUMAN			5	1369	+			415					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.1245C>T	CCDS4124.1																																																																																				0.388	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1	0			5:115327959
DISC1	27185	broad.mit.edu	37	1	231830345	231830345	+	Missense_Mutation	SNP	G	G	A	rs367543086		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:231830345G>A	ENST00000602281.1	+	2	894	c.841G>A	c.(841-843)Gca>Aca	p.A281T	DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000439617.2_Missense_Mutation_p.A281T|DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366637.3_5'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	281	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCCCAGGCCGCAAGGAACAG	0.612																																						ENST00000439617.2		NA																	0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(841-843)Gca>Aca		disrupted in schizophrenia 1							49.0	53.0	52.0					1																	231830345		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830345G>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.841G>A	1.37:g.231830345G>A	ENSP00000473425:p.Ala281Thr	False	False		Somatic	0				DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000602281.1_Missense_Mutation_p.A281T|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T	p.A281T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	WXS	Illumina HiSeq	Phase_I	Q9NRI5	DISC1_HUMAN			2	894	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	281			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.841G>A	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	0.711	-0.786971	0.02907	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.14144	3.16;2.53;2.99;2.98;2.79;3.17;2.8;2.8;2.78	4.64	-6.62	0.01813	.	0.905177	0.09699	N	0.767312	T	0.02156	0.0067	N	0.01438	-0.865	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28880	0.001;0.089;0.089;0.226;0.033;0.041;0.089;0.089;0.033;0.089;0.001;0.093;0.013;0.089;0.015;0.093;0.093;0.015;0.093;0.093;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16722	0.001;0.009;0.013;0.013;0.005;0.016;0.009;0.009;0.005;0.009;0.001;0.008;0.005;0.009;0.005;0.005;0.008;0.005;0.005;0.005;0.003	T	0.34403	-0.9830	10	0.02654	T	1	-0.1398	1.0607	0.01600	0.4317:0.1966:0.1615:0.2103	.	281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281;281	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	T	281;281;281;281;281;281;281;281;281;281;281;281;132	ENSP00000403888:A281T;ENSP00000320784:A281T;ENSP00000355596:A281T;ENSP00000443996:A281T;ENSP00000440909:A281T;ENSP00000355593:A281T;ENSP00000440953:A281T;ENSP00000295051:A281T;ENSP00000441193:A281T	ENSP00000295051:A281T	A	+	1	0	DISC1	229896968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.175000	0.03102	-1.334000	0.02244	-1.019000	0.02448	GCA		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	0	NM_018662		1:231830345
RASGRF1	5923	broad.mit.edu	37	15	79296394	79296394	+	Silent	SNP	C	C	T	rs140968213		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:79296394C>T	ENST00000419573.3	-	16	2521	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	749	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTCGGTGACGATGTCTTGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16615	0.0		0.0	False		,,,				2504	0.0					ENST00000419573.3		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2245-2247)tcG>tcA		Ras protein-specific guanine nucleotide-releasing factor 1		C	,,	0,4392		0,0,2196	54.0	56.0	55.0		2199,2247,	-8.7	0.0	15	dbSNP_134	55	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,utr-5	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	,,	733/1258,749/1274,	79296394	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296394C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2247G>A	15.37:g.79296394C>T		False	False		Somatic	0				RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000394745.3_5'UTR	p.S749S	NM_002891.4	NP_002882.3	WXS	Illumina HiSeq	Phase_I	Q13972	RGRF1_HUMAN			16	2521	-			749			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2247G>A	CCDS10309.1																																																																																				0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	0	NM_002891		15:79296394
