#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TAF3	83860	broad.mit.edu	37	10	8006092	8006092	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:8006092G>T	ENST00000344293.5	+	3	825	c.619G>T	c.(619-621)Gtt>Ttt	p.V207F		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	207					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CACGCTAGATGTTGTGTTATT	0.488																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(619-621)Gtt>Ttt		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							86.0	86.0	86.0					10																	8006092		1952	4141	6093	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006092G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.619G>T	10.37:g.8006092G>T	ENSP00000340271:p.Val207Phe		Somatic					p.V207F	NM_031923.3	NP_114129.1	WXS	Illumina GAIIx	Phase_I	Q5VWG9	TAF3_HUMAN			3	825	+			207					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.619G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	4.616	0.114487	0.08831	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	T	0.18810	2.19	5.67	-0.579	0.11720	.	0.440966	0.19740	N	0.107156	T	0.15565	0.0375	L	0.57536	1.79	0.09310	N	0.999996	B	0.34103	0.437	B	0.27500	0.08	T	0.10965	-1.0607	10	0.56958	D	0.05	-6.5977	5.7779	0.18289	0.3243:0.0:0.5564:0.1193	.	207	Q5VWG9	TAF3_HUMAN	F	207	ENSP00000340271:V207F	ENSP00000340271:V207F	V	+	1	0	TAF3	8046098	0.288000	0.24324	0.002000	0.10522	0.019000	0.09904	0.931000	0.28871	-0.140000	0.11394	0.655000	0.94253	GTT		0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		18	162	1	0	8.04996e-18	1	8.98782e-18	18	162				
CT47B1	643311	broad.mit.edu	37	X	120007830	120007830	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:120007830C>T	ENST00000371311.3	-	2	1074	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	274										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTGCAGCATCTTGGGCCTCT	0.463																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(820-822)Gat>Aat		cancer/testis antigen family 47, member B1																																				SO:0001583	missense	643311							g.chrX:120007830C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.820G>A	X.37:g.120007830C>T	ENSP00000360360:p.Asp274Asn		Somatic					p.D274N	NM_001145718.1	NP_001139190.1	WXS	Illumina GAIIx	Phase_I	P0C2W7	CT47B_HUMAN			2	1074	-			274					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.820G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947083	0.18356	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.79	-1.64	0.08318	.	1.097150	0.07264	U	0.868017	T	0.13329	0.0323	L	0.29908	0.895	0.09310	N	1	P	0.46020	0.871	B	0.28784	0.094	T	0.16748	-1.0392	9	0.34782	T	0.22	.	2.1147	0.03711	0.2507:0.3826:0.0:0.3667	.	274	P0C2W7	CT47B_HUMAN	N	274	.	ENSP00000360360:D274N	D	-	1	0	CT47B1	119891858	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	-0.209000	0.09358	-0.618000	0.05656	0.279000	0.19357	GAT		0.463	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		25	556	0	0	0	1	0	25	556				
GLS2	27165	broad.mit.edu	37	12	56871719	56871719	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:56871719T>G	ENST00000311966.4	-	6	1054	c.776A>C	c.(775-777)gAa>gCa	p.E259A	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	259					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	GTGCTCACCTTCCTCATTGAG	0.527																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(775-777)gAa>gCa		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						169.0	148.0	155.0					12																	56871719		2203	4300	6503	SO:0001583	missense	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56871719T>G		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.776A>C	12.37:g.56871719T>G	ENSP00000310447:p.Glu259Ala		Somatic					p.E259A	NM_013267.2	NP_037399.2	WXS	Illumina GAIIx	Phase_I	Q9UI32	GLSL_HUMAN			6	1054	-			259					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	c.776A>C	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.546848	0.27652	.	.	ENSG00000135423	ENST00000311966	T	0.41065	1.01	4.76	4.76	0.60689	Beta-lactamase/transpeptidase-like (1);	0.095575	0.64402	D	0.000001	T	0.32823	0.0842	L	0.33245	0.995	0.80722	D	1	B	0.21071	0.051	B	0.22152	0.038	T	0.09143	-1.0688	10	0.27082	T	0.32	-13.5905	13.6861	0.62517	0.0:0.0:0.0:1.0	.	259	Q9UI32	GLSL_HUMAN	A	259	ENSP00000310447:E259A	ENSP00000310447:E259A	E	-	2	0	GLS2	55157986	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.770000	0.62309	2.142000	0.66516	0.533000	0.62120	GAA		0.527	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		13	365	0	0	0	1	0	13	365				
ANK1	286	broad.mit.edu	37	8	41559142	41559142	+	Splice_Site	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr8:41559142T>A	ENST00000347528.4	-	22	2472		c.e22-2		ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000396942.1_Splice_Site|ANK1_ENST00000352337.4_Splice_Site	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTGACTAACTAAAACGAGAA	0.468											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.e22-2		ankyrin 1, erythrocytic							100.0	94.0	96.0					8																	41559142		2203	4300	6503	SO:0001630	splice_region_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41559142T>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2389-2A>T	8.37:g.41559142T>A			Somatic	OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000347528.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		22	2472	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)						A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Splice_Site	SNP	ENST00000347528.4	37		CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342848	0.82022	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000520299;ENST00000265709;ENST00000358820	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2977	0.82784	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK1	41678299	1.000000	0.71417	0.990000	0.47175	0.773000	0.43773	7.879000	0.87236	2.255000	0.74692	0.533000	0.62120	.		0.468	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	Intron	5	92	0	0	0	1	0	5	92				
DYNC1H1	1778	broad.mit.edu	37	14	102445654	102445654	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:102445654A>T	ENST00000360184.4	+	3	508		c.e3-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTTCTTTTTAGCTTGGCATT	0.358																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e3-1		dynein, cytoplasmic 1, heavy chain 1							67.0	71.0	70.0					14																	102445654		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102445654A>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.345-1A>T	14.37:g.102445654A>T			Somatic						NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			3	508	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37		CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653968	0.88056	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0993	0.81158	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101515407	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	8.930000	0.92872	2.207000	0.71202	0.459000	0.35465	.		0.358	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	6	141	0	0	0	1	0	6	141				
ITPR2	3709	broad.mit.edu	37	12	26848562	26848562	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:26848562C>T	ENST00000381340.3	-	10	1389	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	325	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCATTTTGGGCATCTCGATAA	0.299																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(973-975)Gcc>Acc		inositol 1,4,5-trisphosphate receptor, type 2							62.0	59.0	60.0					12																	26848562		1824	4081	5905	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26848562C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.973G>A	12.37:g.26848562C>T	ENSP00000370744:p.Ala325Thr		Somatic					p.A325T	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			10	1389	-	Colorectal(261;0.0847)		325			MIR 4.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.973G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040471	0.35989	.	.	ENSG00000123104	ENST00000381340	D	0.91124	-2.79	3.97	3.97	0.46021	MIR motif (2);MIR (2);	0.365064	0.29335	N	0.012447	T	0.82051	0.4953	N	0.14661	0.345	0.80722	D	1	B	0.14438	0.01	B	0.20577	0.03	T	0.76127	-0.3073	10	0.10902	T	0.67	.	17.3529	0.87329	0.0:1.0:0.0:0.0	.	325	Q14571	ITPR2_HUMAN	T	325	ENSP00000370744:A325T	ENSP00000370744:A325T	A	-	1	0	ITPR2	26739829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.711000	0.61881	2.504000	0.84457	0.563000	0.77884	GCC		0.299	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	84	0	0	0	1	0	18	84				
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.e4-1		actin related protein 2/3 complex, subunit 2, 34kDa							101.0	105.0	103.0					2																	219099073		2203	4299	6502	SO:0001630	splice_region_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099073A>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.223-1A>T	2.37:g.219099073A>T			Somatic				ARPC2_ENST00000315717.5_Splice_Site		NM_005731.2	NP_005722.1	WXS	Illumina GAIIx	Phase_I	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	4	483	+		Renal(207;0.0474)						Q92801|Q9P1D4	Splice_Site	SNP	ENST00000295685.10	37		CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758264	0.69763	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1728	0.65522	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC2	218807318	1.000000	0.71417	0.985000	0.45067	0.833000	0.47200	7.690000	0.84178	2.281000	0.76405	0.533000	0.62120	.		0.363	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	Intron	8	210	0	0	0	1	0	8	210				
MYH2	4620	broad.mit.edu	37	17	10442759	10442759	+	Splice_Site	SNP	A	A	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:10442759A>G	ENST00000245503.5	-	13	1651		c.e13+1		MYH2_ENST00000397183.2_Splice_Site|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Splice_Site|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTATGCACCTACCTGTTCTAC	0.443																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.e13+1		myosin, heavy chain 2, skeletal muscle, adult							156.0	163.0	161.0					17																	10442759		2203	4300	6503	SO:0001630	splice_region_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442759A>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1266+1T>C	17.37:g.10442759A>G			Somatic				MYH2_ENST00000532183.1_Splice_Site|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site		NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			13	1651	-								A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37		CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083145	0.55861	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8568	0.63531	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10383484	1.000000	0.71417	0.981000	0.43875	0.545000	0.35147	9.078000	0.94023	2.059000	0.61396	0.477000	0.44152	.		0.443	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Intron	91	235	0	0	0	1	0	91	235				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A			Somatic				CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	160	0	0	0	1	0	6	160				
RBBP6	5930	broad.mit.edu	37	16	24564874	24564874	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:24564874C>A	ENST00000319715.4	+	4	776	c.344C>A	c.(343-345)aCa>aAa	p.T115K	RBBP6_ENST00000381039.3_Missense_Mutation_p.T115K|RBBP6_ENST00000348022.2_Missense_Mutation_p.T115K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	115					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCCCAGCTTACAAAGGTATAT	0.323																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(343-345)aCa>aAa		retinoblastoma binding protein 6							83.0	81.0	81.0					16																	24564874		2197	4297	6494	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24564874C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.344C>A	16.37:g.24564874C>A	ENSP00000317872:p.Thr115Lys		Somatic				RBBP6_ENST00000348022.2_Missense_Mutation_p.T115K|RBBP6_ENST00000381039.3_Missense_Mutation_p.T115K	p.T115K	NM_006910.4	NP_008841.2	WXS	Illumina GAIIx	Phase_I	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	4	776	+			115					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.344C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237529	0.79800	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.18810	2.19;2.44;2.46	5.47	5.47	0.80525	.	0.100271	0.64402	D	0.000002	T	0.24044	0.0582	N	0.22421	0.69	0.42581	D	0.993215	P;P;P	0.50528	0.925;0.936;0.895	B;P;P	0.53401	0.421;0.725;0.454	T	0.01319	-1.1386	10	0.07482	T	0.82	-19.7928	19.6882	0.95987	0.0:1.0:0.0:0.0	.	115;115;115	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	K	115	ENSP00000370427:T115K;ENSP00000317872:T115K;ENSP00000316291:T115K	ENSP00000317872:T115K	T	+	2	0	RBBP6	24472375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.430000	0.66501	2.716000	0.92895	0.650000	0.86243	ACA		0.323	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		10	53	1	0	0.000978159	1	0.00101341	10	53				
LAMA1	284217	broad.mit.edu	37	18	7046368	7046368	+	Splice_Site	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr18:7046368T>A	ENST00000389658.3	-	6	862		c.e6-2			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATAATAATACTAAGGAAAAAG	0.338																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.e6-2		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50.0	53.0	52.0					18																	7046368		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7046368T>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.769-2A>T	18.37:g.7046368T>A			Somatic						NM_005559.3	NP_005550.2	WXS	Illumina GAIIx	Phase_I	P25391	LAMA1_HUMAN			6	862	-		Colorectal(10;0.172)							Splice_Site	SNP	ENST00000389658.3	37		CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621017	0.87460	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0507	0.80760	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA1	7036368	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	7.829000	0.86735	2.243000	0.73865	0.528000	0.53228	.		0.338	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Intron	5	89	0	0	0	1	0	5	89				
GRHL1	29841	broad.mit.edu	37	2	10101473	10101473	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:10101473G>C	ENST00000324907.9	+	4	713	c.577G>C	c.(577-579)Gac>Cac	p.D193H	GRHL1_ENST00000324883.5_Silent_p.L29L|GRHL1_ENST00000405379.2_Missense_Mutation_p.D193H	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	193					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCTCAATACTGACCAGTTCAG	0.542																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(577-579)Gac>Cac		grainyhead-like 1 (Drosophila)							120.0	117.0	118.0					2																	10101473		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10101473G>C	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.577G>C	2.37:g.10101473G>C	ENSP00000324693:p.Asp193His		Somatic				GRHL1_ENST00000405379.2_Missense_Mutation_p.D193H|GRHL1_ENST00000324883.5_Silent_p.L29L	p.D193H	NM_198182.2	NP_937825.2	WXS	Illumina GAIIx	Phase_I	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	713	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		193					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.577G>C	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443776	0.63067	.	.	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.11930	2.73;2.73	5.5	5.5	0.81552	.	0.067555	0.64402	D	0.000012	T	0.15998	0.0385	N	0.08118	0	0.80722	D	1	P	0.52463	0.953	P	0.53954	0.738	T	0.16808	-1.0390	10	0.46703	T	0.11	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	193	Q9NZI5	GRHL1_HUMAN	H	193	ENSP00000384209:D193H;ENSP00000324693:D193H	ENSP00000324693:D193H	D	+	1	0	GRHL1	10018924	1.000000	0.71417	0.944000	0.38274	0.722000	0.41435	6.803000	0.75180	2.594000	0.87642	0.563000	0.77884	GAC		0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		51	146	0	0	0	1	0	51	146				
SPAG5	10615	broad.mit.edu	37	17	26919344	26919344	+	Silent	SNP	T	T	C	rs113667723	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:26919344T>C	ENST00000321765.5	-	3	1250	c.918A>G	c.(916-918)acA>acG	p.T306T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	306					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTGTCAGGCATGTGGACAGAA	0.453													T|||	15	0.00299521	0.0008	0.0058	5008	,	,		22177	0.0		0.0099	False		,,,				2504	0.0					ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(916-918)acA>acG		sperm associated antigen 5		T		11,4395	15.5+/-35.6	0,11,2192	135.0	121.0	126.0		918	-1.2	0.0	17	dbSNP_132	126	111,8489	59.8+/-121.6	1,109,4190	no	coding-synonymous	SPAG5	NM_006461.3		1,120,6382	CC,CT,TT		1.2907,0.2497,0.938		306/1194	26919344	122,12884	2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919344T>C	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.918A>G	17.37:g.26919344T>C			Somatic					p.T306T	NM_006461.3	NP_006452.3	WXS	Illumina GAIIx	Phase_I	Q96R06	SPAG5_HUMAN			3	1250	-	Lung NSC(42;0.00431)		306					O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.918A>G	CCDS32594.1																																																																																				0.453	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		8	215	0	0	0	1	0	8	215				
PITX2	5308	broad.mit.edu	37	4	111539589	111539589	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:111539589A>T	ENST00000354925.2	-	7	2351	c.646T>A	c.(646-648)Tct>Act	p.S216T	PITX2_ENST00000355080.5_Missense_Mutation_p.S170T|PITX2_ENST00000394595.3_Missense_Mutation_p.L147H|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394598.2_Missense_Mutation_p.S216T|PITX2_ENST00000306732.3_Missense_Mutation_p.S223T	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	216					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GACGAGATAGAGTTGGGTGGG	0.547																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(646-648)Tct>Act		paired-like homeodomain 2							83.0	79.0	81.0					4																	111539589		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539589A>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.646T>A	4.37:g.111539589A>T	ENSP00000347004:p.Ser216Thr		Somatic				PITX2_ENST00000394595.3_Missense_Mutation_p.L147H|PITX2_ENST00000394598.2_Missense_Mutation_p.S216T|PITX2_ENST00000355080.5_Missense_Mutation_p.S170T|PITX2_ENST00000306732.3_Missense_Mutation_p.S223T	p.S216T	NM_001204397.1	NP_001191326.1	WXS	Illumina GAIIx	Phase_I	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2351	-		Hepatocellular(203;0.217)	216					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.646T>A	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.77|11.77	1.736899|1.736899	0.30774|0.30774	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000394595|ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	.|D;D;D;D;D	.|0.93547	.|-2.89;-3.02;-3.15;-3.02;-3.24	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.098954	.|0.64402	.|D	.|0.000001	D|D	0.90714|0.90714	0.7086|0.7086	L|L	0.46670|0.46670	1.46|1.46	0.28678|0.28678	N|N	0.905252|0.905252	.|B;B;B;B	.|0.26635	.|0.033;0.111;0.155;0.077	.|B;B;B;B	.|0.28784	.|0.05;0.094;0.085;0.075	D|D	0.84454|0.84454	0.0590|0.0590	6|10	0.87932|0.34782	D|T	0|0.22	.|.	15.3157|15.3157	0.74074|0.74074	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|170;170;216;223	.|A8K6C6;Q99697-3;Q99697;Q99697-2	.|.;.;PITX2_HUMAN;.	H|T	147|223;216;170;216;216	.|ENSP00000304169:S223T;ENSP00000378097:S216T;ENSP00000347192:S170T;ENSP00000347004:S216T;ENSP00000421454:S216T	ENSP00000378095:L147H|ENSP00000304169:S223T	L|S	-|-	2|1	0|0	PITX2|PITX2	111759038|111759038	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.929000|0.929000	0.56500|0.56500	7.136000|7.136000	0.77285|0.77285	2.210000|2.210000	0.71456|0.71456	0.460000|0.460000	0.39030|0.39030	CTC|TCT		0.547	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			55	138	0	0	0	1	0	55	138				
PRKCI	5584	broad.mit.edu	37	3	170013697	170013697	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:170013697A>T	ENST00000295797.4	+	15	1722		c.e15-1			NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota						actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TTATCTTTCTAGTTATTTTGG	0.308																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.e15-1		protein kinase C, iota							41.0	44.0	43.0					3																	170013697		2202	4296	6498	SO:0001630	splice_region_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170013697A>T		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1418-1A>T	3.37:g.170013697A>T			Somatic						NM_002740.5	NP_002731.4	WXS	Illumina GAIIx	Phase_I	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		15	1722	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)							D3DNQ4|Q8WW06	Splice_Site	SNP	ENST00000295797.4	37		CCDS3212.2	.	.	.	.	.	.	.	.	.	.	A	17.10	3.304257	0.60305	.	.	ENSG00000163558	ENST00000295797	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6742	0.62443	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCI	171496391	1.000000	0.71417	0.991000	0.47740	0.706000	0.40770	8.957000	0.93082	2.022000	0.59522	0.528000	0.53228	.		0.308	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	Intron	4	59	0	0	0	1	0	4	59				
PCF11	51585	broad.mit.edu	37	11	82877725	82877725	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:82877725A>G	ENST00000298281.4	+	5	2238	c.1786A>G	c.(1786-1788)Aga>Gga	p.R596G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	596					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.R695R(1)|p.R596R(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCTGCCAAAAGATGGAAATC	0.348																																						ENST00000298281.4																			2	Substitution - coding silent(2)	p.R695R(1)|p.R596R(1)	urinary_tract(2)	cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1786-1788)Aga>Gga		PCF11 cleavage and polyadenylation factor subunit							73.0	75.0	74.0					11																	82877725		1759	3852	5611	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877725A>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1786A>G	11.37:g.82877725A>G	ENSP00000298281:p.Arg596Gly		Somatic					p.R596G	NM_015885.3	NP_056969.2	WXS	Illumina GAIIx	Phase_I	O94913	PCF11_HUMAN			5	2238	+			596					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1786A>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844048	0.51164	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.68903	0.49;-0.36;-0.17	6.07	-0.732	0.11147	.	0.000000	0.64402	D	0.000005	T	0.71099	0.3300	L	0.34521	1.04	0.41136	D	0.985927	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.67280	-0.5710	9	.	.	.	.	17.6867	0.88258	0.3868:0.6132:0.0:0.0	.	596;596	E9PQ01;O94913	.;PCF11_HUMAN	G	596	ENSP00000298281:R596G;ENSP00000434540:R596G;ENSP00000431567:R596G	.	R	+	1	2	PCF11	82555373	0.996000	0.38824	0.972000	0.41901	0.993000	0.82548	0.572000	0.23684	-0.360000	0.08138	-0.316000	0.08728	AGA		0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		47	141	0	0	0	1	0	47	141				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu		Somatic				CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	161	0	0	0	1	0	6	161				
DOCK4	9732	broad.mit.edu	37	7	111555908	111555908	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:111555908C>T	ENST00000437633.1	-	13	1374	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R373K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	373					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGAATATTCCCTTCTGATTTG	0.368																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(1117-1119)aGg>aAg		dedicator of cytokinesis 4							62.0	56.0	58.0					7																	111555908		1815	4088	5903	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111555908C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1118G>A	7.37:g.111555908C>T	ENSP00000404179:p.Arg373Lys		Somatic				DOCK4_ENST00000437633.1_Missense_Mutation_p.R373K|DOCK4_ENST00000476846.1_5'UTR	p.R373K			WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			13	1390	-		Acute lymphoblastic leukemia(1;0.0441)	373					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1118G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.543015|2.543015	0.45280|0.45280	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.02498	.|4.27;4.27	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.041390	.|0.85682	.|N	.|0.000000	T|T	0.02083|0.02083	0.0065|0.0065	N|N	0.04669|0.04669	-0.19|-0.19	0.80722|0.80722	D|D	1|1	.|B;B	.|0.11235	.|0.004;0.002	.|B;B	.|0.13407	.|0.009;0.005	T|T	0.59172|0.59172	-0.7504|-0.7504	5|10	.|0.10902	.|T	.|0.67	.|.	19.3311|19.3311	0.94288|0.94288	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|373;373	.|Q149N5;Q8N1I0	.|.;DOCK4_HUMAN	R|K	361|361;373;373;361;372	.|ENSP00000410746:R373K;ENSP00000404179:R373K	.|ENSP00000345432:R361K	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111343144|111343144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.598000|6.598000	0.74122|0.74122	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GGG|AGG		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	31	0	0	0	1	0	7	31				
C14orf37	145407	broad.mit.edu	37	14	58604706	58604706	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:58604706A>T	ENST00000267485.7	-	2	1564		c.e2+1		C14orf37_ENST00000334342.5_Splice_Site	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCTTTCTTTTACCTTTCATTG	0.323																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.e2+1		chromosome 14 open reading frame 37							49.0	52.0	51.0					14																	58604706		2203	4300	6503	SO:0001630	splice_region_variant	145407					integral to membrane	binding	g.chr14:58604706A>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1369+1T>A	14.37:g.58604706A>T			Somatic				C14orf37_ENST00000334342.5_Splice_Site		NM_001001872.2	NP_001001872.2	WXS	Illumina GAIIx	Phase_I	Q86TY3	CN037_HUMAN			2	1564	-								A8K8Z8|Q6P5Q1|Q86TY1	Splice_Site	SNP	ENST00000267485.7	37		CCDS32089.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559634	0.65538	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.834	0.63398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf37	57674459	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.883000	0.63128	2.288000	0.76882	0.533000	0.62120	.		0.323	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	Intron	6	116	0	0	0	1	0	6	116				
PAK1IP1	55003	broad.mit.edu	37	6	10709469	10709469	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:10709469A>T	ENST00000379568.3	+	10	1255		c.e10-1			NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1						cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TTTGTGTTTTAGTAAGTAAAG	0.368																																						ENST00000379568.3																			0				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.e10-1		PAK1 interacting protein 1							54.0	53.0	54.0					6																	10709469		2202	4300	6502	SO:0001630	splice_region_variant	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10709469A>T	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.965-1A>T	6.37:g.10709469A>T			Somatic						NM_017906.2	NP_060376.2	WXS	Illumina GAIIx	Phase_I	Q9NWT1	PK1IP_HUMAN			10	1255	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)						Q5T4J2|Q96QJ8|Q96T87	Splice_Site	SNP	ENST00000379568.3	37		CCDS34339.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743285	0.30865	.	.	ENSG00000111845	ENST00000379568	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5993	0.33734	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAK1IP1	10817455	0.713000	0.27926	0.529000	0.27951	0.488000	0.33401	2.086000	0.41643	1.604000	0.50143	0.460000	0.39030	.		0.368	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906	Intron	7	79	0	0	0	1	0	7	79				
CORO7	79585	broad.mit.edu	37	16	4412076	4412076	+	Silent	SNP	G	G	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:4412076G>T	ENST00000251166.4	-	16	1633	c.1488C>A	c.(1486-1488)acC>acA	p.T496T	CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Silent_p.T478T|CORO7_ENST00000539968.1_Silent_p.T276T|CORO7-PAM16_ENST00000572467.1_Silent_p.T496T|CORO7_ENST00000423908.2_Silent_p.T328T|CORO7_ENST00000574025.1_Silent_p.T411T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	496					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CACCAGGTGTGGTGAGGTTGA	0.647																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1486-1488)acC>acA		coronin 7							138.0	100.0	113.0					16																	4412076		2197	4299	6496	SO:0001819	synonymous_variant	79585							g.chr16:4412076G>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1488C>A	16.37:g.4412076G>T			Somatic				CORO7_ENST00000574025.1_Silent_p.T411T|CORO7_ENST00000423908.2_Silent_p.T328T|CORO7-PAM16_ENST00000572467.1_Silent_p.T496T|CORO7_ENST00000539968.1_Silent_p.T276T|CORO7_ENST00000537233.2_Silent_p.T478T	p.T496T	NM_024535.4	NP_078811.3	WXS	Illumina GAIIx	Phase_I					16	1633	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1488C>A	CCDS10513.1																																																																																				0.647	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		2	3	1	0	0.0784	1	0.0790877	2	3				
BUB1B	701	broad.mit.edu	37	15	40505655	40505655	+	Silent	SNP	G	G	A	rs146821149		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:40505655G>A	ENST00000287598.6	+	20	2853	c.2658G>A	c.(2656-2658)agG>agA	p.R886R	BUB1B_ENST00000412359.3_Silent_p.R900R	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	886	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGAGTCCAAGGTGTCTGATTC	0.348			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(2656-2658)agG>agA		BUB1 mitotic checkpoint serine/threonine kinase B							142.0	148.0	146.0					15																	40505655		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40505655G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2658G>A	15.37:g.40505655G>A			Somatic				BUB1B_ENST00000412359.3_Silent_p.R900R	p.R886R	NM_001211.5	NP_001202.4	WXS	Illumina GAIIx	Phase_I	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	20	2853	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	886			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.2658G>A	CCDS10053.1																																																																																				0.348	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			42	79	0	0	0	1	0	42	79				
NEURL3	93082	broad.mit.edu	37	2	97164150	97164150	+	RNA	SNP	T	T	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:97164150T>C	ENST00000310865.3	-	0	942							A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 3						Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)										GGCAGCGTGATAGAAGCAGAT	0.607																																						ENST00000310865.3																			0													neuralized E3 ubiquitin protein ligase 3							45.0	49.0	47.0					2																	97164150		2092	4216	6308			93082							g.chr2:97164150T>C		CCDS74541.1, CCDS74542.1	2q11.2	2013-10-24	2013-10-24		ENSG00000163121	ENSG00000163121			25162	protein-coding gene	gene with protein product			"""neuralized homolog 3 (Drosophila) pseudogene"""			15936721	Standard	NM_001285486		Approved	Lincr, LOC93082	uc010yuo.2	Q96EH8	OTTHUMG00000128645		2.37:g.97164150T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	942	-								C9DQJ5|C9DQJ6|C9DQJ7	RNA	SNP	ENST00000310865.3	37																																																																																						0.607	NEURL3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000250521.1	NM_138397		36	63	0	0	0	1	0	36	63				
EPB41	2035	broad.mit.edu	37	1	29319924	29319924	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:29319924T>A	ENST00000343067.4	+	3	678	c.551T>A	c.(550-552)gTa>gAa	p.V184E	EPB41_ENST00000347529.3_Missense_Mutation_p.V184E|EPB41_ENST00000373797.1_Missense_Mutation_p.V184E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.V184E|EPB41_ENST00000356093.2_Missense_Mutation_p.V184E|EPB41_ENST00000373798.1_Missense_Mutation_p.V184E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	184					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAAATAGAAGTAAAAGAAGAA	0.388																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(550-552)gTa>gAa		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							125.0	129.0	128.0					1																	29319924		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29319924T>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.551T>A	1.37:g.29319924T>A	ENSP00000345259:p.Val184Glu		Somatic				EPB41_ENST00000398863.2_Missense_Mutation_p.V184E|EPB41_ENST00000373797.1_Missense_Mutation_p.V184E|EPB41_ENST00000373798.1_Missense_Mutation_p.V184E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.V184E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.V184E	p.V184E	NM_001166005.1	NP_001159477.1	WXS	Illumina GAIIx	Phase_I	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	3	678	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	184					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.551T>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	T	2.710	-0.268952	0.05716	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;T;T;D;D	0.82893	-1.65;-1.66;-1.47;-1.36;-1.65;-1.63	4.69	3.54	0.40534	.	1.139730	0.06550	N	0.744894	T	0.70237	0.3201	N	0.19112	0.55	0.24140	N	0.995739	B;B;B;B;B	0.09022	0.001;0.0;0.001;0.002;0.0	B;B;B;B;B	0.12156	0.004;0.001;0.004;0.007;0.001	T	0.49597	-0.8923	10	0.02654	T	1	.	10.7241	0.46057	0.0:0.0:0.1603:0.8397	.	184;184;184;184;184	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	E	201;184;184;184;184;184;184;184	ENSP00000345259:V184E;ENSP00000348397:V184E;ENSP00000381839:V184E;ENSP00000290100:V184E;ENSP00000362904:V184E;ENSP00000362903:V184E	ENSP00000345259:V184E	V	+	2	0	EPB41	29192511	0.058000	0.20735	0.080000	0.20451	0.735000	0.41995	0.472000	0.22116	0.791000	0.33826	0.455000	0.32223	GTA		0.388	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		8	233	0	0	0	1	0	8	233				
NUP153	9972	broad.mit.edu	37	6	17662260	17662260	+	Silent	SNP	T	T	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:17662260T>C	ENST00000262077.2	-	10	1256	c.1257A>G	c.(1255-1257)gaA>gaG	p.E419E	NUP153_ENST00000537253.1_Silent_p.E419E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	419					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTCTCGTTGTTCTCTATTTT	0.303																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(1255-1257)gaA>gaG		nucleoporin 153kDa							252.0	254.0	253.0					6																	17662260		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17662260T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1257A>G	6.37:g.17662260T>C			Somatic				NUP153_ENST00000537253.1_Silent_p.E419E	p.E419E	NM_005124.2	NP_005115.2	WXS	Illumina GAIIx	Phase_I	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		10	1256	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	419					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.1257A>G	CCDS4541.1																																																																																				0.303	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			86	137	0	0	0	1	0	86	137				
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTGTTTTTTAGTTTTGAAAA	0.358																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.e20-1		kinesin family member 15							81.0	81.0	81.0					3																	44856401		2203	4300	6503	SO:0001630	splice_region_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44856401A>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2384-1A>T	3.37:g.44856401A>T			Somatic				KIF15_ENST00000425755.1_Splice_Site		NM_020242.2	NP_064627.1	WXS	Illumina GAIIx	Phase_I	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	20	2532	+								Q17RV9|Q69YL6|Q96JX7|Q9H280	Splice_Site	SNP	ENST00000326047.4	37		CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884123	0.72410	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4799	0.75517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF15	44831405	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.323000	0.79105	2.200000	0.70718	0.482000	0.46254	.		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		Intron	5	100	0	0	0	1	0	5	100				
CEP78	84131	broad.mit.edu	37	9	80856610	80856610	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:80856610A>T	ENST00000424347.2	+	4	788		c.e4-1		CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376597.4_Splice_Site|CEP78_ENST00000277082.5_Splice_Site|CEP78_ENST00000376598.2_Splice_Site			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTTCCATTTTAGTTATTTGTC	0.338																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.e4-1		centrosomal protein 78kDa							90.0	90.0	90.0					9																	80856610		1851	4090	5941	SO:0001630	splice_region_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80856610A>T	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.500-1A>T	9.37:g.80856610A>T			Somatic				CEP78_ENST00000277082.5_Splice_Site|CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000376598.2_Splice_Site|CEP78_ENST00000376597.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5JTW2	CEP78_HUMAN			4	788	+								A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Splice_Site	SNP	ENST00000424347.2	37			.	.	.	.	.	.	.	.	.	.	a	8.813	0.935595	0.18206	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	.	.	.	5.47	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7943	0.46451	0.8579:0.0:0.0:0.1421	.	.	.	.	.	-1	.	.	.	+	.	.	CEP78	80046430	1.000000	0.71417	0.998000	0.56505	0.059000	0.15707	8.334000	0.90028	0.884000	0.36064	-0.351000	0.07748	.		0.338	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	Intron	6	98	0	0	0	1	0	6	98				
ACLY	47	broad.mit.edu	37	17	40028034	40028034	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:40028034C>T	ENST00000352035.2	-	25	2975	c.2845G>A	c.(2845-2847)Gcc>Acc	p.A949T	ACLY_ENST00000588779.1_5'Flank|ACLY_ENST00000590151.1_Missense_Mutation_p.A949T|ACLY_ENST00000393896.2_Missense_Mutation_p.A939T|ACLY_ENST00000353196.1_Missense_Mutation_p.A939T|ACLY_ENST00000537919.1_Missense_Mutation_p.A678T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	949					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTGTCAAAGGCTTTACTGAAC	0.502																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2845-2847)Gcc>Acc		ATP citrate lyase							136.0	116.0	123.0					17																	40028034		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40028034C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2845G>A	17.37:g.40028034C>T	ENSP00000253792:p.Ala949Thr		Somatic				ACLY_ENST00000393896.2_Missense_Mutation_p.A939T|ACLY_ENST00000353196.1_Missense_Mutation_p.A939T|ACLY_ENST00000537919.1_Missense_Mutation_p.A678T|ACLY_ENST00000590151.1_Missense_Mutation_p.A949T	p.A949T	NM_001096.2	NP_001087.2	WXS	Illumina GAIIx	Phase_I	P53396	ACLY_HUMAN			25	2975	-		Breast(137;0.000143)	949					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.2845G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793081	0.96952	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89552	-1.56;-1.55;-2.53;-1.55	5.95	5.95	0.96441	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.151102	0.64402	N	0.000015	D	0.95909	0.8668	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D	0.76494	0.969;0.997;0.999;0.995;0.969	P;D;D;D;P	0.70716	0.724;0.952;0.952;0.97;0.843	D	0.95985	0.8981	10	0.87932	D	0	.	20.3645	0.98876	0.0:1.0:0.0:0.0	.	678;993;1003;939;949	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	T	949;1003;939;678;939	ENSP00000253792:A949T;ENSP00000345398:A939T;ENSP00000445349:A678T;ENSP00000377474:A939T	ENSP00000253792:A949T	A	-	1	0	ACLY	37281560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.562000	0.82300	2.821000	0.97095	0.561000	0.74099	GCC		0.502	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		47	105	0	0	0	1	0	47	105				
COL5A3	50509	broad.mit.edu	37	19	10116808	10116808	+	Missense_Mutation	SNP	C	C	T	rs144021089		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:10116808C>T	ENST00000264828.3	-	2	273	c.188G>A	c.(187-189)cGg>cAg	p.R63Q		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	63	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGAATGCCCGGTCACCCTC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		14806	0.001		0.0	False		,,,				2504	0.0					ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(187-189)cGg>cAg		collagen, type V, alpha 3		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	31.0	30.0	30.0		188	0.3	1.0	19	dbSNP_134	30	0,8600		0,0,4300	no	missense	COL5A3	NM_015719.3	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	63/1746	10116808	2,13004	2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116808C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.188G>A	19.37:g.10116808C>T	ENSP00000264828:p.Arg63Gln		Somatic					p.R63Q	NM_015719.3	NP_056534.2	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		2	273	-			63			TSP N-terminal.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.188G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	8.896	0.955103	0.18507	4.54E-4	0.0	ENSG00000080573	ENST00000264828	T	0.79033	-1.23	4.02	0.303	0.15791	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.652929	0.13193	N	0.406600	T	0.60051	0.2239	L	0.34521	1.04	0.23391	N	0.997775	B	0.13145	0.007	B	0.04013	0.001	T	0.41233	-0.9520	10	0.27785	T	0.31	.	3.0824	0.06266	0.2056:0.5383:0.0:0.256	.	63	P25940	CO5A3_HUMAN	Q	63	ENSP00000264828:R63Q	ENSP00000264828:R63Q	R	-	2	0	COL5A3	9977808	0.956000	0.32656	0.984000	0.44739	0.140000	0.21249	0.933000	0.28897	0.326000	0.23384	-0.362000	0.07510	CGG		0.657	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	23	0	0	0	1	0	4	23				
MSL1	339287	broad.mit.edu	37	17	38289885	38289885	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:38289885C>A	ENST00000398532.4	+	7	1970	c.1655C>A	c.(1654-1656)aCc>aAc	p.T552N	MSL1_ENST00000579565.1_Missense_Mutation_p.T289N|MSL1_ENST00000578648.1_Missense_Mutation_p.T536N	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	552	Sufficient for interaction with MSL3 MRG domain.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CCTGAGGTTACCTCATTTTTC	0.433																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(1654-1656)aCc>aAc		male-specific lethal 1 homolog (Drosophila)							52.0	46.0	48.0					17																	38289885		1875	4093	5968	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38289885C>A		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1655C>A	17.37:g.38289885C>A	ENSP00000381543:p.Thr552Asn		Somatic				MSL1_ENST00000578648.1_Missense_Mutation_p.T536N|MSL1_ENST00000579565.1_Missense_Mutation_p.T289N	p.T552N			WXS	Illumina GAIIx	Phase_I	Q68DK7	MSL1_HUMAN			7	1970	+			552					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.1655C>A		.	.	.	.	.	.	.	.	.	.	C	11.85	1.760398	0.31137	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.45276	0.9	5.75	5.75	0.90469	.	0.053335	0.85682	D	0.000000	T	0.44871	0.1314	N	0.24115	0.695	0.51767	D	0.999935	.	.	.	.	.	.	T	0.30446	-0.9978	8	0.45353	T	0.12	-3.7749	18.7135	0.91667	0.0:1.0:0.0:0.0	.	.	.	.	N	289;552	ENSP00000381543:T552N	ENSP00000341409:T289N	T	+	2	0	MSL1	35543411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.722000	0.61958	2.720000	0.93068	0.555000	0.69702	ACC		0.433	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		4	83	1	0	0.014758	1	0.0150192	4	83				
GPR158	57512	broad.mit.edu	37	10	25887796	25887796	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:25887796A>C	ENST00000376351.3	+	11	3600	c.3241A>C	c.(3241-3243)Att>Ctt	p.I1081L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1081					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGCCAGTCCATTTTGGAAGA	0.502																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3241-3243)Att>Ctt		G protein-coupled receptor 158							92.0	95.0	94.0					10																	25887796		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887796A>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3241A>C	10.37:g.25887796A>C	ENSP00000365529:p.Ile1081Leu		Somatic				GPR158_ENST00000490549.1_3'UTR	p.I1081L	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			11	3600	+			1081					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3241A>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.798088	0.00617	.	.	ENSG00000151025	ENST00000376351	T	0.29397	1.57	5.27	-2.2	0.06994	.	0.956005	0.08660	N	0.912554	T	0.11324	0.0276	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.08179	T	0.78	.	1.662	0.02794	0.4208:0.1707:0.257:0.1515	.	1081	Q5T848	GP158_HUMAN	L	1081	ENSP00000365529:I1081L	ENSP00000365529:I1081L	I	+	1	0	GPR158	25927802	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.029000	0.12329	-0.050000	0.13356	-0.213000	0.12676	ATT		0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		73	203	0	0	0	1	0	73	203				
NUP205	23165	broad.mit.edu	37	7	135307659	135307659	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:135307659C>T	ENST00000285968.6	+	31	4491	c.4465C>T	c.(4465-4467)Cat>Tat	p.H1489Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1489					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGTGATGGTCATGAGATTGG	0.388																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4465-4467)Cat>Tat		nucleoporin 205kDa							93.0	89.0	91.0					7																	135307659		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135307659C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4465C>T	7.37:g.135307659C>T	ENSP00000285968:p.His1489Tyr		Somatic					p.H1489Y	NM_015135.2	NP_055950.1	WXS	Illumina GAIIx	Phase_I	Q92621	NU205_HUMAN			31	4491	+			1489					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4465C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517663	0.85495	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59653	-0.7414	10	0.66056	D	0.02	-12.7394	18.2858	0.90113	0.0:1.0:0.0:0.0	.	1489	Q92621	NU205_HUMAN	Y	1489	ENSP00000285968:H1489Y	ENSP00000285968:H1489Y	H	+	1	0	NUP205	134958199	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.705000	0.84606	2.386000	0.81285	0.591000	0.81541	CAT		0.388	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			40	134	0	0	0	1	0	40	134				
CYTH1	9267	broad.mit.edu	37	17	76692093	76692093	+	Splice_Site	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:76692093T>A	ENST00000446868.3	-	10	882		c.e10-2		CYTH1_ENST00000589296.1_Intron|RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000585509.1_Splice_Site|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000591455.1_Intron|CYTH1_ENST00000589297.1_Splice_Site			Q15438	CYH1_HUMAN	cytohesin 1						establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ACATACCTCCTGGAGTTTGGG	0.388																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.e10-2		cytohesin 1							81.0	80.0	80.0					17																	76692093		1937	4134	6071	SO:0001630	splice_region_variant	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76692093T>A	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.812-2A>T	17.37:g.76692093T>A			Somatic				CYTH1_ENST00000591455.1_Intron|CYTH1_ENST00000585509.1_Splice_Site|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q15438	CYH1_HUMAN			10	1327	-								A6NFW7|B7Z1T4|Q9P123|Q9P124	Splice_Site	SNP	ENST00000446868.3	37			.	.	.	.	.	.	.	.	.	.	T	35	5.566275	0.96540	.	.	ENSG00000108669	ENST00000446868	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYTH1	74203688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.639000	0.67868	2.254000	0.74563	0.533000	0.62120	.		0.388	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	Intron	42	84	0	0	0	1	0	42	84				
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTATTTCTTTAGGTTATTGTG	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e18-1		A kinase (PRKA) anchor protein 9							33.0	34.0	34.0					7																	91667731		2202	4289	6491	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667731A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4375-1A>T	7.37:g.91667731A>T			Somatic				AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4599	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)							A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37			.	.	.	.	.	.	.	.	.	.	A	19.69	3.874587	0.72180	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5989	0.62007	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP9	91505667	1.000000	0.71417	0.954000	0.39281	0.937000	0.57800	5.928000	0.70088	2.008000	0.58898	0.477000	0.44152	.		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Intron	5	78	0	0	0	1	0	5	78				
PPM1B	5495	broad.mit.edu	37	2	44457623	44457623	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:44457623T>G	ENST00000282412.4	+	6	1618	c.1206T>G	c.(1204-1206)aaT>aaG	p.N402K	PPM1B_ENST00000345249.4_Missense_Mutation_p.N115K|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	402					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)				TGAGAATTAATCATAGGGGAA	0.473																																						ENST00000282412.4																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(1204-1206)aaT>aaG		protein phosphatase, Mg2+/Mn2+ dependent, 1B							87.0	93.0	91.0					2																	44457623		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44457623T>G	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	ENST00000282412.4:c.1206T>G	2.37:g.44457623T>G	ENSP00000282412:p.Asn402Lys		Somatic				PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000345249.4_Missense_Mutation_p.N115K|PPM1B_ENST00000409432.3_3'UTR	p.N402K	NM_002706.4	NP_002697.1	WXS	Illumina GAIIx	Phase_I	O75688	PPM1B_HUMAN			6	1618	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	402					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.1206T>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107366	0.37145	.	.	ENSG00000138032	ENST00000282412;ENST00000345249	T	0.22539	1.95	5.19	1.54	0.23209	.	0.190945	0.46442	D	0.000297	T	0.10508	0.0257	N	0.19112	0.55	0.80722	D	1	B	0.31318	0.319	B	0.24701	0.055	T	0.21724	-1.0237	10	0.26408	T	0.33	-21.0997	8.3293	0.32175	0.0:0.2356:0.0:0.7644	.	402	O75688	PPM1B_HUMAN	K	402;115	ENSP00000282412:N402K	ENSP00000282412:N402K	N	+	3	2	PPM1B	44311127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.435000	0.44811	0.386000	0.24997	0.482000	0.46254	AAT		0.473	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		21	67	0	0	0	1	0	21	67				
UXS1	80146	broad.mit.edu	37	2	106717553	106717553	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:106717553C>A	ENST00000409501.3	-	12	987	c.930G>T	c.(928-930)gtG>gtT	p.V310V	UXS1_ENST00000409032.1_Silent_p.V142V|UXS1_ENST00000540130.1_Silent_p.V253V|UXS1_ENST00000428048.2_Silent_p.V154V|UXS1_ENST00000283148.7_Silent_p.V315V			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	310					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TCATGAGAGCCACGAGGCCAT	0.557																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(943-945)gtG>gtT		UDP-glucuronate decarboxylase 1							87.0	91.0	90.0					2																	106717553		2079	4228	6307	SO:0001819	synonymous_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106717553C>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.930G>T	2.37:g.106717553C>A			Somatic				UXS1_ENST00000428048.2_Silent_p.V154V|UXS1_ENST00000540130.1_Silent_p.V253V|UXS1_ENST00000409501.3_Silent_p.V310V|UXS1_ENST00000409032.1_Silent_p.V142V	p.V315V	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	WXS	Illumina GAIIx	Phase_I	Q8NBZ7	UXS1_HUMAN			12	1042	-			310					Q8NBX3|Q9H5C2	Silent	SNP	ENST00000409501.3	37	c.945G>T	CCDS46378.1																																																																																				0.557	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		47	262	1	0	2.27781e-18	1	2.56812e-18	47	262				
RPLP0P2	113157	broad.mit.edu	37	11	61404307	61404307	+	RNA	SNP	G	G	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:61404307G>T	ENST00000496593.1	+	0	911					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		GCAAGGCCGTGGTGCTGATGG	0.552																																						ENST00000496593.1																			0																																																			113157							g.chr11:61404307G>T	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404307G>T			Somatic						NR_002775.2		WXS	Illumina GAIIx	Phase_I					0	911	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		16	46	1	0	3.45872e-05	1	3.68289e-05	16	46				
DNAJB12	54788	broad.mit.edu	37	10	74100574	74100574	+	Silent	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:74100574C>T	ENST00000444643.2	-	5	1028	c.696G>A	c.(694-696)agG>agA	p.R232R	DNAJB12_ENST00000461919.1_Silent_p.R27R|DNAJB12_ENST00000338820.3_Silent_p.R266R|DNAJB12_ENST00000394903.2_Silent_p.R266R			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	232						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TGCGGTCCTGCCTTTGCTGGT	0.642																																						ENST00000338820.3																			0				endometrium(1)|large_intestine(2)|skin(1)	4						c.(796-798)agG>agA		DnaJ (Hsp40) homolog, subfamily B, member 12							112.0	77.0	89.0					10																	74100574		2203	4300	6503	SO:0001819	synonymous_variant	54788				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr10:74100574C>T	AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.696G>A	10.37:g.74100574C>T			Somatic				DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Silent_p.R266R|DNAJB12_ENST00000444643.2_Silent_p.R232R	p.R266R	NM_001002762.2	NP_001002762.2	WXS	Illumina GAIIx	Phase_I	Q9NXW2	DJB12_HUMAN			5	947	-			232					B7Z7I3|Q9H6H0	Silent	SNP	ENST00000444643.2	37	c.798G>A																																																																																					0.642	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			15	28	0	0	0	1	0	15	28				
GRID1	2894	broad.mit.edu	37	10	87966299	87966299	+	Silent	SNP	G	G	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:87966299G>C	ENST00000327946.7	-	3	427	c.342C>G	c.(340-342)ctC>ctG	p.L114L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	114					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCTGGACAAAGAGGTGTGGGA	0.632										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(340-342)ctC>ctG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						162.0	101.0	122.0					10																	87966299		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87966299G>C	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.342C>G	10.37:g.87966299G>C		Multiple Myeloma(13;0.14)	Somatic					p.L114L	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			3	427	-			114					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.342C>G	CCDS31236.1																																																																																				0.632	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		50	117	0	0	0	1	0	50	117				
TRIM33	51592	broad.mit.edu	37	1	114967253	114967253	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:114967253C>A	ENST00000358465.2	-	10	1903	c.1820G>T	c.(1819-1821)gGc>gTc	p.G607V	TRIM33_ENST00000450349.2_Missense_Mutation_p.G215V|TRIM33_ENST00000369543.2_Missense_Mutation_p.G607V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	607					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATTGAGGGCCGCTGTGCCT	0.433			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1819-1821)gGc>gTc		tripartite motif containing 33							131.0	120.0	124.0					1																	114967253		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114967253C>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1820G>T	1.37:g.114967253C>A	ENSP00000351250:p.Gly607Val		Somatic				TRIM33_ENST00000450349.2_Missense_Mutation_p.G215V|TRIM33_ENST00000369543.2_Missense_Mutation_p.G607V	p.G607V	NM_015906.3	NP_056990.3	WXS	Illumina GAIIx	Phase_I	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1903	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	607					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1820G>T	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.87|10.87	1.472895|1.472895	0.26423|0.26423	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.75704	.|-0.78;-0.69;-0.96	5.86|5.86	4.94|4.94	0.65067|0.65067	.|.	.|0.139770	.|0.64402	.|D	.|0.000004	T|T	0.68924|0.68924	0.3054|0.3054	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;D;D	.|0.57257	.|0.012;0.013;0.979;0.964	.|B;B;P;P	.|0.61658	.|0.008;0.011;0.892;0.784	T|T	0.67465|0.67465	-0.5664|-0.5664	5|10	.|0.13470	.|T	.|0.59	-2.0224|-2.0224	17.2833|17.2833	0.87134|0.87134	0.0:0.8748:0.1252:0.0|0.0:0.8748:0.1252:0.0	.|.	.|215;215;607;607	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	S|V	344|607;607;215	.|ENSP00000351250:G607V;ENSP00000358556:G607V;ENSP00000412077:G215V	.|ENSP00000351250:G607V	A|G	-|-	1|2	0|0	TRIM33|TRIM33	114768776|114768776	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.958000|0.958000	0.62258|0.62258	5.112000|5.112000	0.64634|0.64634	1.453000|1.453000	0.47775|0.47775	0.650000|0.650000	0.86243|0.86243	GCC|GGC		0.433	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		61	130	1	0	9.12251e-31	1	1.04909e-30	61	130				
SLIT2	9353	broad.mit.edu	37	4	20599967	20599967	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:20599967G>A	ENST00000504154.1	+	33	3893	c.3641G>A	c.(3640-3642)cGt>cAt	p.R1214H	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1214	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TATCGGGGGCGTGTTCGTGCC	0.473																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3640-3642)cGt>cAt		slit homolog 2 (Drosophila)							153.0	142.0	146.0					4																	20599967		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20599967G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3641G>A	4.37:g.20599967G>A	ENSP00000422591:p.Arg1214His		Somatic				SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227H	p.R1214H	NM_004787.1	NP_004778.1	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			33	3893	+			1214			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3641G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	g	9.343	1.063602	0.20067	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.161948	0.56097	D	0.000027	T	0.54679	0.1873	N	0.05124	-0.11	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.53542	-0.8424	10	0.07482	T	0.82	.	12.8221	0.57698	0.0748:0.0:0.9252:0.0	.	1206;1214	O94813-3;O94813	.;SLIT2_HUMAN	H	1206;1214;1227;1210;1210	ENSP00000427548:R1206H;ENSP00000422591:R1214H;ENSP00000273739:R1227H;ENSP00000422261:R1210H	ENSP00000273739:R1227H	R	+	2	0	SLIT2	20209065	1.000000	0.71417	0.693000	0.30195	0.802000	0.45316	7.625000	0.83145	2.678000	0.91216	0.644000	0.83932	CGT		0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			82	113	0	0	0	1	0	82	113				
LDLR	3949	broad.mit.edu	37	19	11224382	11224382	+	Silent	SNP	G	G	A	rs367655096		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:11224382G>A	ENST00000558518.1	+	10	1717	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	LDLR_ENST00000545707.1_Silent_p.T383T|LDLR_ENST00000557933.1_Silent_p.T510T|LDLR_ENST00000535915.1_Silent_p.T469T|LDLR_ENST00000455727.2_Silent_p.T342T|LDLR_ENST00000558013.1_Silent_p.T510T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	510					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGAGGAAAACGTTATTCAGGG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21469	0.0		0.0	False		,,,				2504	0.0				GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CD005364	LDLR	D		c.(1528-1530)acG>acA		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	117.0	93.0	101.0		1530,1530,1407,1026,1167,1149	-9.4	0.0	19		101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LDLR	NM_000527.4,NM_001195798.1,NM_001195799.1,NM_001195800.1,NM_001195802.1,NM_001195803.1	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	510/861,510/859,469/820,342/693,389/740,383/683	11224382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224382G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1530G>A	19.37:g.11224382G>A			Somatic				LDLR_ENST00000558013.1_Silent_p.T510T|LDLR_ENST00000557933.1_Silent_p.T510T|LDLR_ENST00000535915.1_Silent_p.T469T|LDLR_ENST00000545707.1_Silent_p.T383T|LDLR_ENST00000455727.2_Silent_p.T342T	p.T510T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	WXS	Illumina GAIIx	Phase_I	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1717	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	510					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1530G>A	CCDS12254.1																																																																																				0.582	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			19	47	0	0	0	1	0	19	47				
NCAPH2	29781	broad.mit.edu	37	22	50954874	50954874	+	Splice_Site	SNP	A	A	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:50954874A>C	ENST00000420993.2	+	2	230		c.e2-1		NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000395701.3_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TGTTTCTTGCAGCTGGATCAG	0.537																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.e2-1		non-SMC condensin II complex, subunit H2							140.0	120.0	127.0					22																	50954874		2203	4300	6503	SO:0001630	splice_region_variant	29781				chromosome condensation	chromosome|nucleus		g.chr22:50954874A>C	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.109-1A>C	22.37:g.50954874A>C			Somatic				NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	2	202	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)						B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Splice_Site	SNP	ENST00000420993.2	37		CCDS14094.2	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635620	0.67130	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000299821	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6932	0.62559	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPH2	49301740	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.885000	0.92439	1.928000	0.55862	0.402000	0.26972	.		0.537	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299	Intron	10	51	0	0	0	1	0	10	51				
RBM43	375287	broad.mit.edu	37	2	152112099	152112099	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:152112099T>C	ENST00000331426.5	-	2	313	c.162A>G	c.(160-162)atA>atG	p.I54M		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGTCGGATATATCACATCTT	0.338																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(160-162)atA>atG		RNA binding motif protein 43							150.0	152.0	151.0					2																	152112099		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152112099T>C	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.162A>G	2.37:g.152112099T>C	ENSP00000331211:p.Ile54Met		Somatic					p.I54M	NM_198557.2	NP_940959.1	WXS	Illumina GAIIx	Phase_I	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	313	-			54			RRM.		B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.162A>G	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533822	0.45073	.	.	ENSG00000184898	ENST00000331426	T	0.46451	0.87	4.44	-2.49	0.06403	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.648102	0.14928	N	0.290224	T	0.24509	0.0594	L	0.29908	0.895	0.80722	D	1	B	0.33807	0.426	B	0.32090	0.14	T	0.04115	-1.0976	10	0.54805	T	0.06	-4.0271	6.2437	0.20805	0.0:0.3993:0.2685:0.3322	.	54	Q6ZSC3	RBM43_HUMAN	M	54	ENSP00000331211:I54M	ENSP00000331211:I54M	I	-	3	3	RBM43	151820345	0.056000	0.20664	0.992000	0.48379	0.704000	0.40688	-1.055000	0.03493	-0.301000	0.08882	0.260000	0.18958	ATA		0.338	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		59	132	0	0	0	1	0	59	132				
AEBP2	121536	broad.mit.edu	37	12	19646732	19646732	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:19646732A>T	ENST00000398864.3	+	4	1013		c.e4-1		AEBP2_ENST00000360995.4_Splice_Site|AEBP2_ENST00000541908.1_Splice_Site|AEBP2_ENST00000266508.9_Splice_Site	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2						chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATTTTCTTTTAGTGTGTTGTT	0.418																																						ENST00000266508.9																			0				ovary(1)	1						c.e4-1		AE binding protein 2							61.0	62.0	62.0					12																	19646732		1921	4132	6053	SO:0001630	splice_region_variant	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19646732A>T		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.988-1A>T	12.37:g.19646732A>T			Somatic				AEBP2_ENST00000398864.3_Splice_Site|AEBP2_ENST00000541908.1_Splice_Site|AEBP2_ENST00000360995.4_Splice_Site		NM_153207.4	NP_694939.2	WXS	Illumina GAIIx	Phase_I	Q6ZN18	AEBP2_HUMAN			4	988	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)							Q59FS5|Q6ZN62|Q96BG3	Splice_Site	SNP	ENST00000398864.3	37		CCDS44841.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215381	0.79352	.	.	ENSG00000139154	ENST00000538425;ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2972	0.73919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AEBP2	19537999	1.000000	0.71417	0.926000	0.36857	0.882000	0.50991	8.170000	0.89673	2.195000	0.70347	0.528000	0.53228	.		0.418	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207	Intron	8	61	0	0	0	1	0	8	61				
RHOBTB1	9886	broad.mit.edu	37	10	62670706	62670706	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:62670706A>T	ENST00000337910.5	-	4	572	c.235T>A	c.(235-237)Tct>Act	p.S79T	RNU2-72P_ENST00000411175.1_RNA|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S79T	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	79	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGCCTGAGAGAAACACTCACT	0.488																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(235-237)Tct>Act		Rho-related BTB domain containing 1							164.0	127.0	140.0					10																	62670706		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62670706A>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.235T>A	10.37:g.62670706A>T	ENSP00000338671:p.Ser79Thr		Somatic				RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S79T	p.S79T	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	WXS	Illumina GAIIx	Phase_I	O94844	RHBT1_HUMAN			4	572	-	Prostate(12;0.0112)		79			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.235T>A	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	A	32	5.110390	0.94292	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.76060	-0.99;-0.99	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	L	0.38649	1.16	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.82448	-0.0452	10	0.62326	D	0.03	.	15.9815	0.80114	1.0:0.0:0.0:0.0	.	79	O94844	RHBT1_HUMAN	T	79	ENSP00000350595:S79T;ENSP00000338671:S79T	ENSP00000338671:S79T	S	-	1	0	RHOBTB1	62340712	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	9.225000	0.95219	2.174000	0.68829	0.454000	0.30748	TCT		0.488	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			40	104	0	0	0	1	0	40	104				
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site|RP11-468E2.6_ENST00000558325.1_5'Flank	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGCTTCTCTTAGTTCATATCT	0.463																																						ENST00000446197.3																			0											c.e8-1		DDB1 and CUL4 associated factor 11							173.0	146.0	155.0					14																	24587957		2203	4300	6503	SO:0001630	splice_region_variant	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24587957A>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.725-1A>T	14.37:g.24587957A>T			Somatic				DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site		NM_025230.4	NP_079506.3	WXS	Illumina GAIIx	Phase_I	Q8TEB1	DCA11_HUMAN			8	1451	+								B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Splice_Site	SNP	ENST00000446197.3	37		CCDS9610.1	.	.	.	.	.	.	.	.	.	.	a	16.59	3.165130	0.57476	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7873	0.57514	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF11	23657797	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.189000	0.77747	2.125000	0.65367	0.533000	0.62120	.		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Intron	13	314	0	0	0	1	0	13	314				
WDR46	9277	broad.mit.edu	37	6	33254931	33254931	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:33254931C>T	ENST00000374617.4	-	9	1308	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	318							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCGAGCCGCCCAGCTCGAGCA	0.502																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(952-954)Ggg>Agg		WD repeat domain 46							96.0	96.0	96.0					6																	33254931		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33254931C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.952G>A	6.37:g.33254931C>T	ENSP00000363746:p.Gly318Arg		Somatic					p.G318R	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	WXS	Illumina GAIIx	Phase_I	O15213	WDR46_HUMAN			9	1308	-			318					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.952G>A	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770513	0.90108	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.19669	4.86;2.13	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.53158	-0.8478	10	0.87932	D	0	-15.8324	15.7036	0.77560	0.0:1.0:0.0:0.0	.	264;318	B4DP15;O15213	.;WDR46_HUMAN	R	318;245	ENSP00000363746:G318R;ENSP00000405568:G245R	ENSP00000363746:G318R	G	-	1	0	WDR46	33362909	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.535000	0.73838	2.555000	0.86185	0.549000	0.68633	GGG		0.502	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		56	150	0	0	0	1	0	56	150				
SHROOM2	357	broad.mit.edu	37	X	9914789	9914789	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:9914789C>T	ENST00000380913.3	+	10	4753	c.4663C>T	c.(4663-4665)Cgc>Tgc	p.R1555C	SHROOM2_ENST00000418909.2_Missense_Mutation_p.R390C	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1555	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.R1555C(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTGGACCGCCGCGAGCGCAT	0.547																																						ENST00000380913.3																			1	Substitution - Missense(1)	p.R1555C(1)	endometrium(1)	breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4663-4665)Cgc>Tgc		shroom family member 2							44.0	40.0	41.0					X																	9914789		2203	4299	6502	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9914789C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4663C>T	X.37:g.9914789C>T	ENSP00000370299:p.Arg1555Cys		Somatic				SHROOM2_ENST00000418909.2_Missense_Mutation_p.R390C	p.R1555C	NM_001649.2	NP_001640.1	WXS	Illumina GAIIx	Phase_I	Q13796	SHRM2_HUMAN			10	4753	+		Hepatocellular(5;0.000888)	1555			ASD2.		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.4663C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962301	0.53400	.	.	ENSG00000146950	ENST00000380913;ENST00000418909	T;T	0.47528	0.84;0.84	4.58	1.44	0.22558	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.71558	0.3354	M	0.89840	3.065	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77086	-0.2718	10	0.87932	D	0	-27.7349	13.1999	0.59761	0.5244:0.4756:0.0:0.0	.	389;1555	Q68DU3;Q13796	.;SHRM2_HUMAN	C	1555;390	ENSP00000370299:R1555C;ENSP00000415229:R390C	ENSP00000370299:R1555C	R	+	1	0	SHROOM2	9874789	0.381000	0.25140	0.542000	0.28115	0.609000	0.37215	0.811000	0.27198	0.306000	0.22856	-0.325000	0.08501	CGC		0.547	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		8	18	0	0	0	1	0	8	18				
CSTF3	1479	broad.mit.edu	37	11	33123767	33123767	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:33123767C>T	ENST00000323959.4	-	10	921	c.782G>A	c.(781-783)aGc>aAc	p.S261N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	261					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AAGAGGGTTGCTCTTTTCCCA	0.433																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(781-783)aGc>aAc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							183.0	168.0	173.0					11																	33123767		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33123767C>T	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.782G>A	11.37:g.33123767C>T	ENSP00000315791:p.Ser261Asn		Somatic				TCP11L1_ENST00000324357.9_Intron	p.S261N	NM_001326.2	NP_001317.1	WXS	Illumina GAIIx	Phase_I	Q12996	CSTF3_HUMAN			10	921	-			261					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.782G>A	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797836	0.70567	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36340	1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.82517	2.595	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44605	-0.9317	10	0.46703	T	0.11	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	261	Q12996	CSTF3_HUMAN	N	261;194	ENSP00000315791:S261N	ENSP00000315791:S261N	S	-	2	0	CSTF3	33080343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.813000	0.86123	2.728000	0.93425	0.591000	0.81541	AGC		0.433	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		27	104	0	0	0	1	0	27	104				
WDR66	144406	broad.mit.edu	37	12	122369710	122369710	+	Missense_Mutation	SNP	A	A	T	rs556933458	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:122369710A>T	ENST00000288912.4	+	4	1660	c.806A>T	c.(805-807)gAa>gTa	p.E269V	WDR66_ENST00000397454.2_Missense_Mutation_p.E269V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	269							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATTCGAGAGGAAAGGCAGAGA	0.453																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(805-807)gAa>gTa		WD repeat domain 66							147.0	134.0	138.0					12																	122369710		1958	4164	6122	SO:0001583	missense	144406						calcium ion binding	g.chr12:122369710A>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.806A>T	12.37:g.122369710A>T	ENSP00000288912:p.Glu269Val		Somatic				WDR66_ENST00000397454.2_Missense_Mutation_p.E269V	p.E269V	NM_144668.5	NP_653269.3	WXS	Illumina GAIIx	Phase_I	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	4	1660	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		269					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.806A>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983723	0.53827	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.05786	3.4;3.39	4.82	3.66	0.41972	.	0.836583	0.10857	N	0.626556	T	0.11665	0.0284	M	0.71581	2.175	0.20489	N	0.999899	P	0.40794	0.729	B	0.42555	0.391	T	0.15607	-1.0431	10	0.35671	T	0.21	.	9.6826	0.40078	0.9147:0.0:0.0852:0.0	.	269	Q8TBY9	WDR66_HUMAN	V	269	ENSP00000288912:E269V;ENSP00000380595:E269V	ENSP00000288912:E269V	E	+	2	0	WDR66	120854093	0.599000	0.26891	0.002000	0.10522	0.942000	0.58702	1.772000	0.38552	0.680000	0.31366	0.402000	0.26972	GAA		0.453	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		45	108	0	0	0	1	0	45	108				
TMEM214	54867	broad.mit.edu	37	2	27256957	27256957	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:27256957C>A	ENST00000238788.9	+	2	236	c.174C>A	c.(172-174)acC>acA	p.T58T	TMEM214_ENST00000404032.3_Silent_p.T58T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	58					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCACAAGCACCCTTTATGAGC	0.547																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(172-174)acC>acA		transmembrane protein 214							101.0	104.0	103.0					2																	27256957		1945	4143	6088	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27256957C>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.174C>A	2.37:g.27256957C>A			Somatic				TMEM214_ENST00000404032.3_Silent_p.T58T	p.T58T	NM_017727.4	NP_060197.4	WXS	Illumina GAIIx	Phase_I	Q6NUQ4	TM214_HUMAN			2	236	+			58					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.174C>A	CCDS42664.1																																																																																				0.547	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		91	160	1	0	7.22319e-40	1	8.39058e-40	91	160				
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000328916.3_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTCTCTGTTAGTTAATTGCA	0.418																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.e9-1		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						66.0	65.0	65.0					12																	7172402		2203	4300	6503	SO:0001630	splice_region_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172402A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.518-1A>T	12.37:g.7172402A>T			Somatic				C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000402681.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			9	1145	+								D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Splice_Site	SNP	ENST00000406697.1	37		CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.745149	0.30955	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1S	7042663	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	7.053000	0.76641	2.371000	0.80710	0.533000	0.62120	.		0.418	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	Intron	15	193	0	0	0	1	0	15	193				
CTPS1	1503	broad.mit.edu	37	1	41471734	41471734	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:41471734A>G	ENST00000372621.4	+	13	1772	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A	CTPS1_ENST00000372616.1_Missense_Mutation_p.T422A|CTPS1_ENST00000541520.1_Missense_Mutation_p.T191A	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TGCCAATTCTACAGAGTTTGA	0.408																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1264-1266)Aca>Gca		CTP synthase 1	L-Glutamine(DB00130)						125.0	119.0	121.0					1																	41471734		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41471734A>G	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1264A>G	1.37:g.41471734A>G	ENSP00000361704:p.Thr422Ala		Somatic				CTPS1_ENST00000541520.1_Missense_Mutation_p.T191A|CTPS1_ENST00000372616.1_Missense_Mutation_p.T422A	p.T422A	NM_001905.2	NP_001896.2	WXS	Illumina GAIIx	Phase_I	P17812	PYRG1_HUMAN			13	1772	+			422			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1264A>G	CCDS459.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630830	0.46944	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.45668	0.92;0.89;0.92	5.95	4.83	0.62350	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.39898	1.24	0.80722	D	1	B;B	0.22604	0.009;0.072	B;B	0.21917	0.014;0.037	T	0.07481	-1.0770	10	0.17832	T	0.49	.	10.9519	0.47334	0.9265:0.0:0.0735:0.0	.	191;422	B4DR64;P17812	.;PYRG1_HUMAN	A	422;191;422	ENSP00000361704:T422A;ENSP00000442646:T191A;ENSP00000361699:T422A	ENSP00000361699:T422A	T	+	1	0	CTPS	41244321	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.692000	0.91284	1.081000	0.41110	0.533000	0.62120	ACA		0.408	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		37	117	0	0	0	1	0	37	117				
POM121C	100101267	broad.mit.edu	37	7	75054987	75054987	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:75054987C>G	ENST00000257665.5	-	7	1302	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000453279.2_Missense_Mutation_p.E193Q			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	435	Pore side. {ECO:0000255}.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CACAGCTCTTCTTCTCTGTTG	0.453																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(577-579)Gaa>Caa		POM121 transmembrane nucleoporin C							53.0	58.0	56.0					7																	75054987		2201	4297	6498	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75054987C>G		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1303G>C	7.37:g.75054987C>G	ENSP00000257665:p.Glu435Gln		Somatic				POM121C_ENST00000257665.5_Missense_Mutation_p.E435Q|POM121C_ENST00000473168.1_5'UTR	p.E193Q	NM_001099415.1	NP_001092885.1	WXS	Illumina GAIIx	Phase_I	A8CG34	P121C_HUMAN			9	1441	-			435			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.577G>C		.	.	.	.	.	.	.	.	.	.	C	6.040	0.375715	0.11409	.	.	ENSG00000135213	ENST00000257665;ENST00000453279;ENST00000439629	T;T;T	0.14766	2.48;2.48;2.48	3.46	3.46	0.39613	.	0.182425	0.26045	N	0.026672	T	0.14874	0.0359	L	0.54323	1.7	0.80722	D	1	B	0.26935	0.164	B	0.25506	0.061	T	0.05920	-1.0856	10	0.66056	D	0.02	.	12.0262	0.53371	0.0:1.0:0.0:0.0	.	435	A8CG34	P121C_HUMAN	Q	435;193;65	ENSP00000257665:E435Q;ENSP00000414208:E193Q;ENSP00000410033:E65Q	ENSP00000257665:E435Q	E	-	1	0	POM121C	74892923	1.000000	0.71417	0.944000	0.38274	0.035000	0.12851	3.005000	0.49521	1.641000	0.50575	0.195000	0.17529	GAA		0.453	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		11	21	0	0	0	1	0	11	21				
FCAR	2204	broad.mit.edu	37	19	55399613	55399613	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:55399613C>T	ENST00000355524.3	+	4	611	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	FCAR_ENST00000391726.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.P92S|FCAR_ENST00000359272.4_Missense_Mutation_p.P189S|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.P201S|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391725.3_Intron|CTB-61M7.2_ENST00000594721.1_lincRNA	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	201					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAACAGGAGCCCCTACCTGTG	0.582																																						ENST00000355524.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(601-603)Ccc>Tcc		Fc fragment of IgA, receptor for							76.0	66.0	69.0					19																	55399613		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55399613C>T	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.601C>T	19.37:g.55399613C>T	ENSP00000347714:p.Pro201Ser		Somatic				FCAR_ENST00000359272.4_Missense_Mutation_p.P189S|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.P201S|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.P92S|FCAR_ENST00000391725.3_Intron	p.P201S	NM_002000.2	NP_001991.1	WXS	Illumina GAIIx	Phase_I	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	611	+			201					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.601C>T	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326258	0.41197	.	.	ENSG00000186431	ENST00000433231;ENST00000355524;ENST00000353758;ENST00000359272	T;T;T	0.00873	5.59;5.59;5.59	2.86	2.86	0.33363	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.34777	N	0.003689	T	0.03178	0.0093	L	0.56199	1.76	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;0.996;0.996;1.0	D;D;D;D	0.91635	0.981;0.968;0.956;0.999	T	0.20472	-1.0274	10	0.66056	D	0.02	.	9.3833	0.38327	0.0:1.0:0.0:0.0	.	92;189;201;201	Q92592;Q9UEK0;P24071;P24071-4	.;.;FCAR_HUMAN;.	S	201;201;92;189	ENSP00000347714:P201S;ENSP00000338058:P92S;ENSP00000352218:P189S	ENSP00000338058:P92S	P	+	1	0	FCAR	60091425	0.138000	0.22547	0.266000	0.24541	0.039000	0.13416	2.284000	0.43478	1.890000	0.54733	0.563000	0.77884	CCC		0.582	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		8	27	0	0	0	1	0	8	27				
ESPNP	284729	broad.mit.edu	37	1	17023321	17023321	+	RNA	SNP	T	T	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:17023321T>G	ENST00000492551.1	-	0	1626					NR_026567.1				espin pseudogene																		GTCAGCCCCTTGCTCTGTGGC	0.637																																						ENST00000492551.1																			0																																																			284729							g.chr1:17023321T>G	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023321T>G			Somatic						NR_026567.1		WXS	Illumina GAIIx	Phase_I					0	1626	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.637	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	57	0	0	0	1	0	4	57				
VHL	7428	broad.mit.edu	37	3	10191488	10191488	+	Nonsense_Mutation	SNP	C	C	T	rs5030818		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:10191488C>T	ENST00000256474.2	+	3	1321	c.481C>T	c.(481-483)Cga>Tga	p.R161*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.R120*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	161	Interaction with Elongin BC complex.		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040}.|R -> Q (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R161*(13)|p.E160fs*9(2)|p.R161del(1)|p.R161fs*13(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161fs*9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTGAAAGAGCGATGCCTCCA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		21	Substitution - Nonsense(13)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Deletion - In frame(1)	p.R161*(13)|p.E160fs*9(2)|p.R161del(1)|p.R161fs*13(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161fs*9(1)	kidney(17)|soft_tissue(2)|paratesticular_tissues(1)|pancreas(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM941381|CM961432	VHL	M	rs5030818	c.(481-483)Cga>Tga		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							91.0	83.0	86.0					3																	10191488		2203	4300	6503	SO:0001587	stop_gained	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191488C>T	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.481C>T	3.37:g.10191488C>T	ENSP00000256474:p.Arg161*		Somatic				VHL_ENST00000345392.2_Nonsense_Mutation_p.R120*|VHL_ENST00000477538.1_3'UTR	p.R161*	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1321	+			161		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II).	Interaction with Elongin BC complex.		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	c.481C>T	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829386	0.71258	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8766	11.9485	0.52942	0.3106:0.6894:0.0:0.0	rs5030818	.	.	.	X	161;120;79	.	ENSP00000256474:R161X	R	+	1	2	VHL	10166488	0.997000	0.39634	0.933000	0.37362	0.704000	0.40688	1.161000	0.31773	1.416000	0.47057	-0.122000	0.15005	CGA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		18	38	0	0	0	1	0	18	38				
WDR83	84292	broad.mit.edu	37	19	12783897	12783897	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:12783897T>A	ENST00000418543.3	+	9	999	c.650T>A	c.(649-651)cTc>cAc	p.L217H	WDR83_ENST00000242796.4_Missense_Mutation_p.L217H|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	217					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						ACATTGCGGCTCCTGGACAAA	0.657																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(649-651)cTc>cAc		WD repeat domain 83							63.0	69.0	67.0					19																	12783897		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12783897T>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.650T>A	19.37:g.12783897T>A	ENSP00000402653:p.Leu217His		Somatic				WDR83_ENST00000242796.4_Missense_Mutation_p.L217H	p.L217H	NM_001099737.2	NP_001093207.1	WXS	Illumina GAIIx	Phase_I	Q9BRX9	WDR83_HUMAN			9	999	+			217					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.650T>A	CCDS12275.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.675017|4.675017	0.88445|0.88445	.|.	.|.	ENSG00000123154|ENSG00000123154	ENST00000418543;ENST00000242796|ENST00000547797	D;D|.	0.84516|.	-1.86;-1.86|.	5.43|5.43	5.43|5.43	0.79202|0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88727|0.88727	0.6515|0.6515	H|H	0.98664|0.98664	4.295|4.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.92854|0.92854	0.6300|0.6300	10|5	0.87932|.	D|.	0|.	.|.	14.4605|14.4605	0.67445|0.67445	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	217|.	Q9BRX9|.	WDR83_HUMAN|.	H|T	217|149	ENSP00000402653:L217H;ENSP00000242796:L217H|.	ENSP00000242796:L217H|.	L|S	+|+	2|1	0|0	WDR83|WDR83	12644897|12644897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.392000|7.392000	0.79840|0.79840	2.061000|2.061000	0.61500|0.61500	0.459000|0.459000	0.35465|0.35465	CTC|TCC		0.657	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		42	86	0	0	0	1	0	42	86				
CEBPZ	10153	broad.mit.edu	37	2	37428925	37428925	+	Silent	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:37428925A>T	ENST00000234170.5	-	16	3292	c.3147T>A	c.(3145-3147)acT>acA	p.T1049T	AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000392061.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1049					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTGTTTTTTAGTTTTTTGAG	0.294																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(3145-3147)acT>acA		CCAAT/enhancer binding protein (C/EBP), zeta							37.0	37.0	37.0					2																	37428925		2203	4299	6502	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37428925A>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3147T>A	2.37:g.37428925A>T			Somatic				AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000392061.2_Intron	p.T1049T	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			16	3292	-		all_hematologic(82;0.21)	1049					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.3147T>A	CCDS1787.1																																																																																				0.294	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		4	29	0	0	0	1	0	4	29				
CCDC7	79741	broad.mit.edu	37	10	32974970	32974970	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:32974970T>A	ENST00000375030.2	+	7	758	c.140T>A	c.(139-141)aTa>aAa	p.I47K	C10orf68_ENST00000375025.4_Missense_Mutation_p.I39K|C10orf68_ENST00000375028.3_Missense_Mutation_p.I53K			Q9H943	CJ068_HUMAN		39										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAATTACAAATAAAGAAACAA	0.289																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(139-141)aTa>aAa		chromosome 10 open reading frame 68							60.0	59.0	60.0					10																	32974970		2203	4292	6495	SO:0001583	missense	79741							g.chr10:32974970T>A																												ENST00000375030.2:c.140T>A	10.37:g.32974970T>A	ENSP00000364170:p.Ile47Lys		Somatic				C10orf68_ENST00000375025.4_Missense_Mutation_p.I39K|C10orf68_ENST00000375028.3_Missense_Mutation_p.I53K	p.I47K			WXS	Illumina GAIIx	Phase_I	Q9H943	CJ068_HUMAN			7	758	+			39					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.140T>A		.	.	.	.	.	.	.	.	.	.	.	8.921	0.961077	0.18583	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.32023	1.5;1.47;1.51;1.48	3.38	-6.76	0.01732	.	.	.	.	.	T	0.14313	0.0346	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15719	0.009;0.009;0.014	B;B;B	0.15052	0.012;0.012;0.012	T	0.30179	-0.9987	9	0.72032	D	0.01	.	5.7008	0.17881	0.6289:0.1812:0.0:0.1899	.	39;53;47	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	K	39;47;53;39;25	ENSP00000303710:I39K;ENSP00000364170:I47K;ENSP00000364168:I53K;ENSP00000364165:I39K	ENSP00000303710:I39K	I	+	2	0	C10orf68	33014976	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.928000	0.03980	-2.097000	0.00851	-0.672000	0.03802	ATA		0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			4	52	0	0	0	1	0	4	52				
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		4	Substitution - Nonsense(4)	p.R819*(2)|p.R1322*(2)	lung(4)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(3964-3966)Cga>Tga		SET domain containing 2							104.0	98.0	100.0					3																	47162162		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162162G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3964C>T	3.37:g.47162162G>A	ENSP00000386759:p.Arg1322*		Somatic					p.R1322*	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4006	-		Acute lymphoblastic leukemia(5;0.0169)	1322					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.3964C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	39	7.350623	0.98228	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.32	4.38	0.52667	.	0.000000	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6621	0.68879	0.0:0.0:0.779:0.221	.	.	.	.	X	1322;1322;1322;1278	.	ENSP00000386759:R1322X	R	-	1	2	SETD2	47137166	0.881000	0.30235	0.996000	0.52242	0.962000	0.63368	1.783000	0.38664	2.770000	0.95276	0.563000	0.77884	CGA		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		57	106	0	0	0	1	0	57	106				
MAEA	10296	broad.mit.edu	37	4	1305934	1305934	+	Silent	SNP	C	C	T	rs199554247		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:1305934C>T	ENST00000303400.4	+	2	300	c.237C>T	c.(235-237)agC>agT	p.S79S	MAEA_ENST00000505839.1_Silent_p.S31S|MAEA_ENST00000452175.2_Silent_p.S68S|MAEA_ENST00000505177.2_Silent_p.S79S|MAEA_ENST00000264750.6_Silent_p.S79S|MAEA_ENST00000510794.1_Silent_p.S78S|MAEA_ENST00000514708.1_Silent_p.S79S	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	79	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AGAAGCTCAGCGTCCTCAAGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18208	0.001		0.0	False		,,,				2504	0.0					ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(235-237)agC>agT		macrophage erythroblast attacher							37.0	39.0	38.0					4																	1305934		2203	4300	6503	SO:0001819	synonymous_variant	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1305934C>T	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.237C>T	4.37:g.1305934C>T			Somatic				MAEA_ENST00000505839.1_Silent_p.S31S|MAEA_ENST00000505177.2_Silent_p.S79S|MAEA_ENST00000264750.6_Silent_p.S79S|MAEA_ENST00000514708.1_Silent_p.S79S|MAEA_ENST00000510794.1_Silent_p.S78S|MAEA_ENST00000452175.2_Silent_p.S68S	p.S79S	NM_001017405.1	NP_001017405.1	WXS	Illumina GAIIx	Phase_I	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		2	300	+			79			Extracellular and involved in cell to cell contact.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Silent	SNP	ENST00000303400.4	37	c.237C>T	CCDS33936.1																																																																																				0.622	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		15	28	0	0	0	1	0	15	28				
TSHZ2	128553	broad.mit.edu	37	20	51870416	51870416	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:51870416G>A	ENST00000371497.5	+	2	1306	c.419G>A	c.(418-420)gGc>gAc	p.G140D	TSHZ2_ENST00000329613.6_Missense_Mutation_p.G137D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G137D|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	140					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TACTGGTCAGGCCTGGGCCTT	0.512																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(418-420)gGc>gAc		teashirt zinc finger homeobox 2							82.0	76.0	78.0					20																	51870416		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870416G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.419G>A	20.37:g.51870416G>A	ENSP00000360552:p.Gly140Asp		Somatic				TSHZ2_ENST00000329613.6_Missense_Mutation_p.G137D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G137D	p.G140D	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina GAIIx	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1306	+			140					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.419G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818639	0.50633	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.13778	2.56;2.56	5.7	5.7	0.88788	.	0.049433	0.85682	D	0.000000	T	0.21718	0.0523	L	0.47716	1.5	0.50467	D	0.999879	D	0.57899	0.981	P	0.49637	0.617	T	0.00880	-1.1529	10	0.21540	T	0.41	-16.2423	19.8272	0.96622	0.0:0.0:1.0:0.0	.	140	Q9NRE2	TSH2_HUMAN	D	140;137	ENSP00000360552:G140D;ENSP00000333114:G137D	ENSP00000333114:G137D	G	+	2	0	TSHZ2	51303823	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.236000	0.78154	2.685000	0.91497	0.643000	0.83706	GGC		0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		14	220	0	0	0	1	0	14	220				
GRPEL1	80273	broad.mit.edu	37	4	7062876	7062876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:7062876G>A	ENST00000264954.4	-	4	531	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	123					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGAACACACTGTGTTGCCTTC	0.463																																						ENST00000264954.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(367-369)Cag>Tag		GrpE-like 1, mitochondrial (E. coli)							105.0	107.0	106.0					4																	7062876		2203	4300	6503	SO:0001587	stop_gained	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7062876G>A	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.367C>T	4.37:g.7062876G>A	ENSP00000264954:p.Gln123*		Somatic				GRPEL1_ENST00000514056.1_5'UTR	p.Q123*	NM_025196.2	NP_079472.1	WXS	Illumina GAIIx	Phase_I	Q9HAV7	GRPE1_HUMAN			4	531	-			123					B2R783|Q549M6	Nonsense_Mutation	SNP	ENST00000264954.4	37	c.367C>T	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668234	0.88348	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	3.88	0.44766	.	0.104529	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.5528	0.68078	0.0:0.575:0.425:0.0	.	.	.	.	X	123;102	.	ENSP00000264954:Q123X	Q	-	1	0	GRPEL1	7113777	1.000000	0.71417	0.113000	0.21522	0.780000	0.44128	5.043000	0.64208	1.373000	0.46208	0.561000	0.74099	CAG		0.463	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196		47	139	0	0	0	1	0	47	139				
TRIM3	10612	broad.mit.edu	37	11	6479378	6479378	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:6479378C>T	ENST00000525074.1	-	3	674	c.280G>A	c.(280-282)Gat>Aat	p.D94N	TRIM3_ENST00000345851.3_Missense_Mutation_p.D94N|TRIM3_ENST00000537602.1_Missense_Mutation_p.D94N|TRIM3_ENST00000359518.3_Missense_Mutation_p.D94N|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000529058.1_5'Flank	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	94					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCCATCAGGTGCCTGC	0.647																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(280-282)Gat>Aat		tripartite motif containing 3							47.0	49.0	49.0					11																	6479378		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479378C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.280G>A	11.37:g.6479378C>T	ENSP00000433102:p.Asp94Asn		Somatic				TRIM3_ENST00000537602.1_Missense_Mutation_p.D94N|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.D94N|TRIM3_ENST00000359518.3_Missense_Mutation_p.D94N	p.D94N	NM_001248006.1	NP_001234935.1	WXS	Illumina GAIIx	Phase_I	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	674	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	94					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.280G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604985	0.46423	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000528227;ENST00000529529	T;T;T;T;T;T	0.73897	-0.62;-0.62;-0.79;-0.62;0.98;1.7	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);	0.160258	0.56097	D	0.000035	T	0.53722	0.1814	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.15484	0.013	T	0.50775	-0.8788	10	0.19590	T	0.45	-11.6238	17.5983	0.88018	0.0:1.0:0.0:0.0	.	94	O75382	TRIM3_HUMAN	N	94	ENSP00000433102:D94N;ENSP00000340797:D94N;ENSP00000441091:D94N;ENSP00000352508:D94N;ENSP00000433070:D94N;ENSP00000437283:D94N	ENSP00000337094:D94N	D	-	1	0	TRIM3	6435954	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.398000	0.79919	2.507000	0.84556	0.561000	0.74099	GAT		0.647	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		53	112	0	0	0	1	0	53	112				
PCYOX1	51449	broad.mit.edu	37	2	70502098	70502098	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:70502098C>T	ENST00000433351.2	+	4	530	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90C|PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168C|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91C	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	168					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AAGGATCTACCGCTACCAGTC	0.408																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(502-504)Cgc>Tgc		prenylcysteine oxidase 1							115.0	107.0	110.0					2																	70502098		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502098C>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.502C>T	2.37:g.70502098C>T	ENSP00000387654:p.Arg168Cys		Somatic				PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168C|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91C|PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90C	p.R168C	NM_016297.3	NP_057381.3	WXS	Illumina GAIIx	Phase_I	Q9UHG3	PCYOX_HUMAN			4	530	+			168					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.502C>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105183	0.77096	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	T;T;T;T;T;T;T	0.15834	2.39;2.95;2.39;2.95;2.95;2.39;2.95	5.4	5.4	0.78164	Prenylcysteine lyase (1);	0.047613	0.85682	D	0.000000	T	0.42698	0.1214	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.70935	0.964;0.971	T	0.21314	-1.0249	10	0.72032	D	0.01	-9.0745	17.9005	0.88902	0.0:1.0:0.0:0.0	.	150;168	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	C	91;91;91;168;168;91;90	ENSP00000404327:R91C;ENSP00000441566:R91C;ENSP00000413178:R91C;ENSP00000387654:R168C;ENSP00000264441:R168C;ENSP00000408751:R91C;ENSP00000439916:R90C	ENSP00000264441:R168C	R	+	1	0	PCYOX1	70355602	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.543000	0.53633	2.811000	0.96726	0.555000	0.69702	CGC		0.408	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		7	221	0	0	0	1	0	7	221				
STYK1	55359	broad.mit.edu	37	12	10783738	10783738	+	Silent	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:10783738C>T	ENST00000075503.3	-	5	877	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTGCAAATCTGCTCCAGAA	0.507										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(355-357)caG>caA		serine/threonine/tyrosine kinase 1							80.0	77.0	78.0					12																	10783738		2203	4300	6503	SO:0001819	synonymous_variant	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10783738C>T	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.357G>A	12.37:g.10783738C>T		HNSCC(73;0.22)	Somatic					p.Q119Q	NM_018423.2	NP_060893.2	WXS	Illumina GAIIx	Phase_I	Q6J9G0	STYK1_HUMAN			5	877	-			119			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	c.357G>A	CCDS8629.1																																																																																				0.507	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		9	131	0	0	0	1	0	9	131				
SUCO	51430	broad.mit.edu	37	1	172547460	172547460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:172547460G>T	ENST00000263688.3	+	14	1582	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	SUCO_ENST00000367723.4_Nonsense_Mutation_p.E606*|SUCO_ENST00000608151.1_Nonsense_Mutation_p.E607*|SUCO_ENST00000610051.1_Nonsense_Mutation_p.E418*	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	455					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TAGCATGGTGGAAGAATATGA	0.368																																						ENST00000367723.3																			0											c.(1819-1821)Gaa>Taa		SUN domain containing ossification factor							130.0	123.0	125.0					1																	172547460		2203	4300	6503	SO:0001587	stop_gained	51430							g.chr1:172547460G>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1363G>T	1.37:g.172547460G>T	ENSP00000263688:p.Glu455*		Somatic				SUCO_ENST00000263688.3_Nonsense_Mutation_p.E455*	p.E607*	NM_016227.2	NP_057311.2	WXS	Illumina GAIIx	Phase_I					13	1943	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Nonsense_Mutation	SNP	ENST00000263688.3	37	c.1819G>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	40	8.360119	0.98777	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2826	17.5298	0.87810	0.0:0.0:1.0:0.0	.	.	.	.	X	607;455	.	ENSP00000263688:E455X	E	+	1	0	C1orf9	170814083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.560000	0.86352	0.563000	0.77884	GAA		0.368	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		4	59	1	0	1	1	1	4	59				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A			Somatic						NM_002726.4	NP_002717.3	WXS	Illumina GAIIx	Phase_I	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	10	151	0	0	0	1	0	10	151				
SIPA1L3	23094	broad.mit.edu	37	19	38573642	38573642	+	Silent	SNP	C	C	T	rs533477771	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:38573642C>T	ENST00000222345.6	+	3	1946	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	479					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGAAGTTCCCAAGGAGCAGC	0.672													C|||	5	0.000998403	0.0	0.0	5008	,	,		16777	0.0		0.0	False		,,,				2504	0.0051					ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1435-1437)ccC>ccT		signal-induced proliferation-associated 1 like 3							29.0	34.0	32.0					19																	38573642		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38573642C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1437C>T	19.37:g.38573642C>T			Somatic					p.P479P	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1946	+			479					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1437C>T	CCDS33007.1																																																																																				0.672	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		10	26	0	0	0	1	0	10	26				
CEBPZ	10153	broad.mit.edu	37	2	37455860	37455860	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:37455860A>T	ENST00000234170.5	-	2	621	c.476T>A	c.(475-477)gTa>gAa	p.V159E	NDUFAF7_ENST00000002125.4_5'Flank|NDUFAF7_ENST00000336237.6_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	159					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTTTCTTTACTTTCGGTGT	0.363																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(475-477)gTa>gAa		CCAAT/enhancer binding protein (C/EBP), zeta							138.0	135.0	136.0					2																	37455860		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455860A>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.476T>A	2.37:g.37455860A>T	ENSP00000234170:p.Val159Glu		Somatic					p.V159E	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			2	621	-		all_hematologic(82;0.21)	159					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.476T>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.170388	0.00315	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02280	4.36;4.36	5.38	-4.27	0.03744	.	0.830136	0.10917	N	0.619858	T	0.01695	0.0054	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43343	-0.9397	10	0.59425	D	0.04	.	6.4801	0.22057	0.3257:0.3589:0.3154:0.0	.	159	Q03701	CEBPZ_HUMAN	E	159;159;110	ENSP00000234170:V159E;ENSP00000391881:V110E	ENSP00000234170:V159E	V	-	2	0	CEBPZ	37309364	0.000000	0.05858	0.043000	0.18650	0.387000	0.30353	-0.634000	0.05477	-0.612000	0.05701	0.533000	0.62120	GTA		0.363	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		8	173	0	0	0	1	0	8	173				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	70	0	0	0	1	0	4	70				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Somatic				ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	p.T188S	NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		7	161	0	0	0	1	0	7	161				
PPP2R2A	5520	broad.mit.edu	37	8	26221235	26221235	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr8:26221235A>T	ENST00000380737.3	+	8	1131		c.e8-1		PPP2R2A_ENST00000315985.7_Splice_Site	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha						G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ttttgttttTAGTGTTTGAAG	0.373																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.e8-1		protein phosphatase 2, regulatory subunit B, alpha							35.0	37.0	36.0					8																	26221235		2203	4297	6500	SO:0001630	splice_region_variant	5520							g.chr8:26221235A>T	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.803-1A>T	8.37:g.26221235A>T			Somatic				PPP2R2A_ENST00000315985.7_Splice_Site		NM_002717.3	NP_002708.1	WXS	Illumina GAIIx	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	8	1131	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Splice_Site	SNP	ENST00000380737.3	37		CCDS34867.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612923	0.87258	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R2A	26277152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.336000	0.96533	2.308000	0.77769	0.533000	0.62120	.		0.373	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717	Intron	4	25	0	0	0	1	0	4	25				
CTDSPL2	51496	broad.mit.edu	37	15	44751187	44751187	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:44751187A>T	ENST00000260327.4	+	2	539		c.e2-1		CTDSPL2_ENST00000396780.1_Splice_Site|CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000558373.1_5'Flank	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2								phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		tttCTCTTTTAGTTTTACATG	0.343																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.e2-1		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							35.0	38.0	37.0					15																	44751187		2195	4296	6491	SO:0001630	splice_region_variant	51496						phosphoprotein phosphatase activity	g.chr15:44751187A>T	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.-24-1A>T	15.37:g.44751187A>T			Somatic				CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000396780.1_Splice_Site		NM_016396.2	NP_057480.2	WXS	Illumina GAIIx	Phase_I	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	2	539	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)						Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Splice_Site	SNP	ENST00000260327.4	37		CCDS10110.1																																																																																				0.343	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396	Intron	7	64	0	0	0	1	0	7	64				
COL11A2	1302	broad.mit.edu	37	6	33140387	33140387	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:33140387C>A	ENST00000374708.4	-	37	2818	c.2560G>T	c.(2560-2562)Ggg>Tgg	p.G854W	COL11A2_ENST00000395197.1_Missense_Mutation_p.G880W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G914W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G859W|COL11A2_ENST00000357486.1_Missense_Mutation_p.G919W|COL11A2_ENST00000341947.2_Missense_Mutation_p.G940W|COL11A2_ENST00000374713.1_Missense_Mutation_p.G893W|COL11A2_ENST00000361917.1_Missense_Mutation_p.G833W	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	940	Collagen-like 4.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTCTCTCCCCCATAGGGCCG	0.627																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2818-2820)Ggg>Tgg		collagen, type XI, alpha 2							43.0	49.0	47.0					6																	33140387		1509	2709	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33140387C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2560G>T	6.37:g.33140387C>A	ENSP00000363840:p.Gly854Trp		Somatic				COL11A2_ENST00000395197.1_Missense_Mutation_p.G880W|COL11A2_ENST00000374712.1_Missense_Mutation_p.G859W|COL11A2_ENST00000357486.1_Missense_Mutation_p.G919W|COL11A2_ENST00000374713.1_Missense_Mutation_p.G893W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G833W|COL11A2_ENST00000374708.4_Missense_Mutation_p.G854W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G914W	p.G940W	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			39	3045	-			940		Missing (in STL3).	Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2818G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373833	0.82573	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99369	-4.25;-4.25;-4.25;-4.25;-5.78;-4.25;-4.25;-4.25	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97186	0.9854	10	0.87932	D	0	.	15.893	0.79315	0.0:1.0:0.0:0.0	.	833;854;940	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	W	854;940;919;914;893;880;859;833	ENSP00000363840:G854W;ENSP00000339915:G940W;ENSP00000350079:G919W;ENSP00000363846:G914W;ENSP00000363845:G893W;ENSP00000378623:G880W;ENSP00000363844:G859W;ENSP00000355123:G833W	ENSP00000339915:G940W	G	-	1	0	COL11A2	33248365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.560000	0.82277	2.632000	0.89209	0.643000	0.83706	GGG		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			19	38	1	0	1.36565e-18	1	1.55494e-18	19	38				
ASCC3	10973	broad.mit.edu	37	6	101095127	101095127	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:101095127C>A	ENST00000369162.2	-	21	3797	c.3453G>T	c.(3451-3453)ctG>ctT	p.L1151L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1151	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCATGTCTTTCAGCTTATCCA	0.368																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(3451-3453)ctG>ctT		activating signal cointegrator 1 complex subunit 3							115.0	118.0	117.0					6																	101095127		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101095127C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3453G>T	6.37:g.101095127C>A			Somatic					p.L1151L	NM_006828.2	NP_006819.2	WXS	Illumina GAIIx	Phase_I	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	21	3797	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1151			SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.3453G>T	CCDS5046.1																																																																																				0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		8	72	1	0	1.12685e-05	1	1.2111e-05	8	72				
ITPR2	3709	broad.mit.edu	37	12	26848561	26848561	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:26848561G>C	ENST00000381340.3	-	10	1390	c.974C>G	c.(973-975)gCc>gGc	p.A325G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	325	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTCATTTTGGGCATCTCGATA	0.303																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(973-975)gCc>gGc		inositol 1,4,5-trisphosphate receptor, type 2							61.0	59.0	60.0					12																	26848561		1823	4081	5904	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26848561G>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.974C>G	12.37:g.26848561G>C	ENSP00000370744:p.Ala325Gly		Somatic					p.A325G	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			10	1390	-	Colorectal(261;0.0847)		325			MIR 4.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.974C>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504587	0.26949	.	.	ENSG00000123104	ENST00000381340	D	0.90955	-2.76	3.97	3.06	0.35304	MIR motif (2);MIR (2);	0.365064	0.29335	N	0.012447	T	0.79759	0.4501	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68671	-0.5347	10	0.22706	T	0.39	.	2.9178	0.05759	0.1006:0.2267:0.506:0.1666	.	325	Q14571	ITPR2_HUMAN	G	325	ENSP00000370744:A325G	ENSP00000370744:A325G	A	-	2	0	ITPR2	26739828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.096000	0.30976	1.214000	0.43395	0.563000	0.77884	GCC		0.303	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	86	0	0	0	1	0	18	86				
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e77-1		hemicentin 1							70.0	69.0	70.0					1																	186086589		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186086589A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11684-1A>T	1.37:g.186086589A>T			Somatic				HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			77	11912	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669800	0.88348	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8909	0.79296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184353212	1.000000	0.71417	0.969000	0.41365	0.967000	0.64934	9.339000	0.96797	2.146000	0.66826	0.533000	0.62120	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	6	103	0	0	0	1	0	6	103				
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2644-2646)caT>caA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							151.0	157.0	155.0					9																	32541877		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541877A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2646T>A	9.37:g.32541877A>T	ENSP00000353735:p.His882Gln		Somatic				TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	p.H882Q	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2762	-			882			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2646T>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244297	0.39697	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.91	4.76	0.60689	.	0.000000	0.49305	D	0.000157	T	0.09555	0.0235	L	0.29908	0.895	0.32113	N	0.589054	P	0.35272	0.493	B	0.28991	0.097	T	0.17561	-1.0365	10	0.24483	T	0.36	-15.314	5.0089	0.14302	0.6863:0.1565:0.1572:0.0	.	882	Q9NS56	TOPRS_HUMAN	Q	882;817	ENSP00000353735:H882Q;ENSP00000369187:H817Q	ENSP00000353735:H882Q	H	-	3	2	TOPORS	32531877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.101000	0.31037	1.058000	0.40530	0.528000	0.53228	CAT		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		16	370	0	0	0	1	0	16	370				
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e8-1		solute carrier family 35, member F1																																				SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118635189A>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1003-1A>T	6.37:g.118635189A>T			Somatic						NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1203	+								E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Splice_Site	SNP	ENST00000360388.4	37		CCDS34524.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953854	0.73902	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC35F1	118741882	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	7.987000	0.88182	2.186000	0.69663	0.533000	0.62120	.		0.473	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Intron	5	101	0	0	0	1	0	5	101				
TAF3	83860	broad.mit.edu	37	10	8006092	8006092	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr10:8006092G>T	ENST00000344293.5	+	3	825	c.619G>T	c.(619-621)Gtt>Ttt	p.V207F		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	207					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CACGCTAGATGTTGTGTTATT	0.488																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(619-621)Gtt>Ttt		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							86.0	86.0	86.0					10																	8006092		1952	4141	6093	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006092G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.619G>T	10.37:g.8006092G>T	ENSP00000340271:p.Val207Phe		Somatic					p.V207F	NM_031923.3	NP_114129.1	WXS	Illumina GAIIx	Phase_I	Q5VWG9	TAF3_HUMAN			3	825	+			207					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.619G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	4.616	0.114487	0.08831	.	.	ENSG00000165632	ENST00000344293;ENST00000542889	T	0.18810	2.19	5.67	-0.579	0.11720	.	0.440966	0.19740	N	0.107156	T	0.15565	0.0375	L	0.57536	1.79	0.09310	N	0.999996	B	0.34103	0.437	B	0.27500	0.08	T	0.10965	-1.0607	10	0.56958	D	0.05	-6.5977	5.7779	0.18289	0.3243:0.0:0.5564:0.1193	.	207	Q5VWG9	TAF3_HUMAN	F	207	ENSP00000340271:V207F	ENSP00000340271:V207F	V	+	1	0	TAF3	8046098	0.288000	0.24324	0.002000	0.10522	0.019000	0.09904	0.931000	0.28871	-0.140000	0.11394	0.655000	0.94253	GTT		0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		18	162	1	0	8.04996e-18	1	8.95558e-18	18	162				
CT47B1	643311	broad.mit.edu	37	X	120007830	120007830	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chrX:120007830C>T	ENST00000371311.3	-	2	1074	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	274										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTGCAGCATCTTGGGCCTCT	0.463																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(820-822)Gat>Aat		cancer/testis antigen family 47, member B1																																				SO:0001583	missense	643311							g.chrX:120007830C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.820G>A	X.37:g.120007830C>T	ENSP00000360360:p.Asp274Asn		Somatic					p.D274N	NM_001145718.1	NP_001139190.1	WXS	Illumina GAIIx	Phase_I	P0C2W7	CT47B_HUMAN			2	1074	-			274					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.820G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947083	0.18356	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.79	-1.64	0.08318	.	1.097150	0.07264	U	0.868017	T	0.13329	0.0323	L	0.29908	0.895	0.09310	N	1	P	0.46020	0.871	B	0.28784	0.094	T	0.16748	-1.0392	9	0.34782	T	0.22	.	2.1147	0.03711	0.2507:0.3826:0.0:0.3667	.	274	P0C2W7	CT47B_HUMAN	N	274	.	ENSP00000360360:D274N	D	-	1	0	CT47B1	119891858	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	-0.209000	0.09358	-0.618000	0.05656	0.279000	0.19357	GAT		0.463	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		25	556	0	0	0	1	0	25	556				
GLS2	27165	broad.mit.edu	37	12	56871719	56871719	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr12:56871719T>G	ENST00000311966.4	-	6	1054	c.776A>C	c.(775-777)gAa>gCa	p.E259A	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	259					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	GTGCTCACCTTCCTCATTGAG	0.527																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(775-777)gAa>gCa		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						169.0	148.0	155.0					12																	56871719		2203	4300	6503	SO:0001583	missense	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56871719T>G		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.776A>C	12.37:g.56871719T>G	ENSP00000310447:p.Glu259Ala		Somatic					p.E259A	NM_013267.2	NP_037399.2	WXS	Illumina GAIIx	Phase_I	Q9UI32	GLSL_HUMAN			6	1054	-			259					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	c.776A>C	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.546848	0.27652	.	.	ENSG00000135423	ENST00000311966	T	0.41065	1.01	4.76	4.76	0.60689	Beta-lactamase/transpeptidase-like (1);	0.095575	0.64402	D	0.000001	T	0.32823	0.0842	L	0.33245	0.995	0.80722	D	1	B	0.21071	0.051	B	0.22152	0.038	T	0.09143	-1.0688	10	0.27082	T	0.32	-13.5905	13.6861	0.62517	0.0:0.0:0.0:1.0	.	259	Q9UI32	GLSL_HUMAN	A	259	ENSP00000310447:E259A	ENSP00000310447:E259A	E	-	2	0	GLS2	55157986	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.770000	0.62309	2.142000	0.66516	0.533000	0.62120	GAA		0.527	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		13	365	0	0	0	1	0	13	365				
ANK1	286	broad.mit.edu	37	8	41559142	41559142	+	Splice_Site	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr8:41559142T>A	ENST00000347528.4	-	22	2472		c.e22-2		ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000396942.1_Splice_Site|ANK1_ENST00000352337.4_Splice_Site	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTGACTAACTAAAACGAGAA	0.468											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.e22-2		ankyrin 1, erythrocytic							100.0	94.0	96.0					8																	41559142		2203	4300	6503	SO:0001630	splice_region_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41559142T>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2389-2A>T	8.37:g.41559142T>A			Somatic	OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	ANK1_ENST00000289734.7_Splice_Site|ANK1_ENST00000379758.2_Splice_Site|ANK1_ENST00000396945.1_Splice_Site|ANK1_ENST00000352337.4_Splice_Site|ANK1_ENST00000347528.4_Splice_Site|ANK1_ENST00000265709.8_Splice_Site				WXS	Illumina GAIIx	Phase_I	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		22	2472	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)						A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Splice_Site	SNP	ENST00000347528.4	37		CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342848	0.82022	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000520299;ENST00000265709;ENST00000358820	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2977	0.82784	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK1	41678299	1.000000	0.71417	0.990000	0.47175	0.773000	0.43773	7.879000	0.87236	2.255000	0.74692	0.533000	0.62120	.		0.468	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	Intron	5	92	0	0	0	1	0	5	92				
ITPR2	3709	broad.mit.edu	37	12	26848562	26848562	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr12:26848562C>T	ENST00000381340.3	-	10	1389	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	325	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCATTTTGGGCATCTCGATAA	0.299																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(973-975)Gcc>Acc		inositol 1,4,5-trisphosphate receptor, type 2							62.0	59.0	60.0					12																	26848562		1824	4081	5905	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26848562C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.973G>A	12.37:g.26848562C>T	ENSP00000370744:p.Ala325Thr		Somatic					p.A325T	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			10	1389	-	Colorectal(261;0.0847)		325			MIR 4.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.973G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040471	0.35989	.	.	ENSG00000123104	ENST00000381340	D	0.91124	-2.79	3.97	3.97	0.46021	MIR motif (2);MIR (2);	0.365064	0.29335	N	0.012447	T	0.82051	0.4953	N	0.14661	0.345	0.80722	D	1	B	0.14438	0.01	B	0.20577	0.03	T	0.76127	-0.3073	10	0.10902	T	0.67	.	17.3529	0.87329	0.0:1.0:0.0:0.0	.	325	Q14571	ITPR2_HUMAN	T	325	ENSP00000370744:A325T	ENSP00000370744:A325T	A	-	1	0	ITPR2	26739829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.711000	0.61881	2.504000	0.84457	0.563000	0.77884	GCC		0.299	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	84	0	0	0	1	0	18	84				
MYH2	4620	broad.mit.edu	37	17	10442759	10442759	+	Splice_Site	SNP	A	A	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr17:10442759A>G	ENST00000245503.5	-	13	1651		c.e13+1		MYH2_ENST00000397183.2_Splice_Site|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Splice_Site|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTATGCACCTACCTGTTCTAC	0.443																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.e13+1		myosin, heavy chain 2, skeletal muscle, adult							156.0	163.0	161.0					17																	10442759		2203	4300	6503	SO:0001630	splice_region_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442759A>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1266+1T>C	17.37:g.10442759A>G			Somatic				CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site|MYH2_ENST00000532183.1_Splice_Site		NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			13	1651	-								A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37		CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083145	0.55861	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8568	0.63531	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10383484	1.000000	0.71417	0.981000	0.43875	0.545000	0.35147	9.078000	0.94023	2.059000	0.61396	0.477000	0.44152	.		0.443	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Intron	91	235	0	0	0	1	0	91	235				
RBBP6	5930	broad.mit.edu	37	16	24564874	24564874	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr16:24564874C>A	ENST00000319715.4	+	4	776	c.344C>A	c.(343-345)aCa>aAa	p.T115K	RBBP6_ENST00000381039.3_Missense_Mutation_p.T115K|RBBP6_ENST00000348022.2_Missense_Mutation_p.T115K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	115					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCCCAGCTTACAAAGGTATAT	0.323																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(343-345)aCa>aAa		retinoblastoma binding protein 6							83.0	81.0	81.0					16																	24564874		2197	4297	6494	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24564874C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.344C>A	16.37:g.24564874C>A	ENSP00000317872:p.Thr115Lys		Somatic				RBBP6_ENST00000381039.3_Missense_Mutation_p.T115K|RBBP6_ENST00000348022.2_Missense_Mutation_p.T115K	p.T115K	NM_006910.4	NP_008841.2	WXS	Illumina GAIIx	Phase_I	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	4	776	+			115					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.344C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237529	0.79800	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.18810	2.19;2.44;2.46	5.47	5.47	0.80525	.	0.100271	0.64402	D	0.000002	T	0.24044	0.0582	N	0.22421	0.69	0.42581	D	0.993215	P;P;P	0.50528	0.925;0.936;0.895	B;P;P	0.53401	0.421;0.725;0.454	T	0.01319	-1.1386	10	0.07482	T	0.82	-19.7928	19.6882	0.95987	0.0:1.0:0.0:0.0	.	115;115;115	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	K	115	ENSP00000370427:T115K;ENSP00000317872:T115K;ENSP00000316291:T115K	ENSP00000317872:T115K	T	+	2	0	RBBP6	24472375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.430000	0.66501	2.716000	0.92895	0.650000	0.86243	ACA		0.323	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		10	53	1	0	0.000978159	1	0.00102419	10	53				
GRHL1	29841	broad.mit.edu	37	2	10101473	10101473	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:10101473G>C	ENST00000324907.9	+	4	713	c.577G>C	c.(577-579)Gac>Cac	p.D193H	GRHL1_ENST00000324883.5_Silent_p.L29L|GRHL1_ENST00000405379.2_Missense_Mutation_p.D193H	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	193					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCTCAATACTGACCAGTTCAG	0.542																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(577-579)Gac>Cac		grainyhead-like 1 (Drosophila)							120.0	117.0	118.0					2																	10101473		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10101473G>C	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.577G>C	2.37:g.10101473G>C	ENSP00000324693:p.Asp193His		Somatic				GRHL1_ENST00000324883.5_Silent_p.L29L|GRHL1_ENST00000405379.2_Missense_Mutation_p.D193H	p.D193H	NM_198182.2	NP_937825.2	WXS	Illumina GAIIx	Phase_I	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	4	713	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		193					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.577G>C	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443776	0.63067	.	.	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.11930	2.73;2.73	5.5	5.5	0.81552	.	0.067555	0.64402	D	0.000012	T	0.15998	0.0385	N	0.08118	0	0.80722	D	1	P	0.52463	0.953	P	0.53954	0.738	T	0.16808	-1.0390	10	0.46703	T	0.11	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	193	Q9NZI5	GRHL1_HUMAN	H	193	ENSP00000384209:D193H;ENSP00000324693:D193H	ENSP00000324693:D193H	D	+	1	0	GRHL1	10018924	1.000000	0.71417	0.944000	0.38274	0.722000	0.41435	6.803000	0.75180	2.594000	0.87642	0.563000	0.77884	GAC		0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		51	146	0	0	0	1	0	51	146				
PITX2	5308	broad.mit.edu	37	4	111539589	111539589	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr4:111539589A>T	ENST00000354925.2	-	7	2351	c.646T>A	c.(646-648)Tct>Act	p.S216T	PITX2_ENST00000355080.5_Missense_Mutation_p.S170T|PITX2_ENST00000394595.3_Missense_Mutation_p.L147H|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394598.2_Missense_Mutation_p.S216T|PITX2_ENST00000306732.3_Missense_Mutation_p.S223T	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	216					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GACGAGATAGAGTTGGGTGGG	0.547																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(646-648)Tct>Act		paired-like homeodomain 2							83.0	79.0	81.0					4																	111539589		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539589A>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.646T>A	4.37:g.111539589A>T	ENSP00000347004:p.Ser216Thr		Somatic				PITX2_ENST00000355080.5_Missense_Mutation_p.S170T|PITX2_ENST00000394595.3_Missense_Mutation_p.L147H|PITX2_ENST00000394598.2_Missense_Mutation_p.S216T|PITX2_ENST00000306732.3_Missense_Mutation_p.S223T	p.S216T	NM_001204397.1	NP_001191326.1	WXS	Illumina GAIIx	Phase_I	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2351	-		Hepatocellular(203;0.217)	216					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.646T>A	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.77|11.77	1.736899|1.736899	0.30774|0.30774	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000394595|ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	.|D;D;D;D;D	.|0.93547	.|-2.89;-3.02;-3.15;-3.02;-3.24	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.098954	.|0.64402	.|D	.|0.000001	D|D	0.90714|0.90714	0.7086|0.7086	L|L	0.46670|0.46670	1.46|1.46	0.28678|0.28678	N|N	0.905252|0.905252	.|B;B;B;B	.|0.26635	.|0.033;0.111;0.155;0.077	.|B;B;B;B	.|0.28784	.|0.05;0.094;0.085;0.075	D|D	0.84454|0.84454	0.0590|0.0590	6|10	0.87932|0.34782	D|T	0|0.22	.|.	15.3157|15.3157	0.74074|0.74074	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|170;170;216;223	.|A8K6C6;Q99697-3;Q99697;Q99697-2	.|.;.;PITX2_HUMAN;.	H|T	147|223;216;170;216;216	.|ENSP00000304169:S223T;ENSP00000378097:S216T;ENSP00000347192:S170T;ENSP00000347004:S216T;ENSP00000421454:S216T	ENSP00000378095:L147H|ENSP00000304169:S223T	L|S	-|-	2|1	0|0	PITX2|PITX2	111759038|111759038	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.929000|0.929000	0.56500|0.56500	7.136000|7.136000	0.77285|0.77285	2.210000|2.210000	0.71456|0.71456	0.460000|0.460000	0.39030|0.39030	CTC|TCT		0.547	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			55	138	0	0	0	1	0	55	138				
PCF11	51585	broad.mit.edu	37	11	82877725	82877725	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr11:82877725A>G	ENST00000298281.4	+	5	2238	c.1786A>G	c.(1786-1788)Aga>Gga	p.R596G		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	596					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.R695R(1)|p.R596R(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCTGCCAAAAGATGGAAATC	0.348																																						ENST00000298281.4																			2	Substitution - coding silent(2)	p.R695R(1)|p.R596R(1)	urinary_tract(2)	cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1786-1788)Aga>Gga		PCF11 cleavage and polyadenylation factor subunit							73.0	75.0	74.0					11																	82877725		1759	3852	5611	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877725A>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1786A>G	11.37:g.82877725A>G	ENSP00000298281:p.Arg596Gly		Somatic					p.R596G	NM_015885.3	NP_056969.2	WXS	Illumina GAIIx	Phase_I	O94913	PCF11_HUMAN			5	2238	+			596					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1786A>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844048	0.51164	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.68903	0.49;-0.36;-0.17	6.07	-0.732	0.11147	.	0.000000	0.64402	D	0.000005	T	0.71099	0.3300	L	0.34521	1.04	0.41136	D	0.985927	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.67280	-0.5710	9	.	.	.	.	17.6867	0.88258	0.3868:0.6132:0.0:0.0	.	596;596	E9PQ01;O94913	.;PCF11_HUMAN	G	596	ENSP00000298281:R596G;ENSP00000434540:R596G;ENSP00000431567:R596G	.	R	+	1	2	PCF11	82555373	0.996000	0.38824	0.972000	0.41901	0.993000	0.82548	0.572000	0.23684	-0.360000	0.08138	-0.316000	0.08728	AGA		0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		47	141	0	0	0	1	0	47	141				
DOCK4	9732	broad.mit.edu	37	7	111555908	111555908	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr7:111555908C>T	ENST00000437633.1	-	13	1374	c.1118G>A	c.(1117-1119)aGg>aAg	p.R373K	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R373K	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	373					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGAATATTCCCTTCTGATTTG	0.368																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(1117-1119)aGg>aAg		dedicator of cytokinesis 4							62.0	56.0	58.0					7																	111555908		1815	4088	5903	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111555908C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1118G>A	7.37:g.111555908C>T	ENSP00000404179:p.Arg373Lys		Somatic				DOCK4_ENST00000437633.1_Missense_Mutation_p.R373K|DOCK4_ENST00000476846.1_5'UTR	p.R373K			WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			13	1390	-		Acute lymphoblastic leukemia(1;0.0441)	373					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1118G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.543015|2.543015	0.45280|0.45280	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.02498	.|4.27;4.27	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.041390	.|0.85682	.|N	.|0.000000	T|T	0.02083|0.02083	0.0065|0.0065	N|N	0.04669|0.04669	-0.19|-0.19	0.80722|0.80722	D|D	1|1	.|B;B	.|0.11235	.|0.004;0.002	.|B;B	.|0.13407	.|0.009;0.005	T|T	0.59172|0.59172	-0.7504|-0.7504	5|10	.|0.10902	.|T	.|0.67	.|.	19.3311|19.3311	0.94288|0.94288	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|373;373	.|Q149N5;Q8N1I0	.|.;DOCK4_HUMAN	R|K	361|361;373;373;361;372	.|ENSP00000410746:R373K;ENSP00000404179:R373K	.|ENSP00000345432:R361K	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111343144|111343144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.598000|6.598000	0.74122|0.74122	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GGG|AGG		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	31	0	0	0	1	0	7	31				
C14orf37	145407	broad.mit.edu	37	14	58604706	58604706	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr14:58604706A>T	ENST00000267485.7	-	2	1564		c.e2+1		C14orf37_ENST00000334342.5_Splice_Site	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCTTTCTTTTACCTTTCATTG	0.323																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.e2+1		chromosome 14 open reading frame 37							49.0	52.0	51.0					14																	58604706		2203	4300	6503	SO:0001630	splice_region_variant	145407					integral to membrane	binding	g.chr14:58604706A>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1369+1T>A	14.37:g.58604706A>T			Somatic				C14orf37_ENST00000334342.5_Splice_Site		NM_001001872.2	NP_001001872.2	WXS	Illumina GAIIx	Phase_I	Q86TY3	CN037_HUMAN			2	1564	-								A8K8Z8|Q6P5Q1|Q86TY1	Splice_Site	SNP	ENST00000267485.7	37		CCDS32089.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559634	0.65538	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.834	0.63398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf37	57674459	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.883000	0.63128	2.288000	0.76882	0.533000	0.62120	.		0.323	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	Intron	6	116	0	0	0	1	0	6	116				
SPAG5	10615	broad.mit.edu	37	17	26919344	26919344	+	Silent	SNP	T	T	C	rs113667723	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr17:26919344T>C	ENST00000321765.5	-	3	1250	c.918A>G	c.(916-918)acA>acG	p.T306T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	306					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTGTCAGGCATGTGGACAGAA	0.453													T|||	15	0.00299521	0.0008	0.0058	5008	,	,		22177	0.0		0.0099	False		,,,				2504	0.0					ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(916-918)acA>acG		sperm associated antigen 5		T		11,4395	15.5+/-35.6	0,11,2192	135.0	121.0	126.0		918	-1.2	0.0	17	dbSNP_132	126	111,8489	59.8+/-121.6	1,109,4190	no	coding-synonymous	SPAG5	NM_006461.3		1,120,6382	CC,CT,TT		1.2907,0.2497,0.938		306/1194	26919344	122,12884	2203	4300	6503	SO:0001819	synonymous_variant	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26919344T>C	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.918A>G	17.37:g.26919344T>C			Somatic					p.T306T	NM_006461.3	NP_006452.3	WXS	Illumina GAIIx	Phase_I	Q96R06	SPAG5_HUMAN			3	1250	-	Lung NSC(42;0.00431)		306					O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	c.918A>G	CCDS32594.1																																																																																				0.453	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		8	215	0	0	0	1	0	8	215				
BUB1B	701	broad.mit.edu	37	15	40505655	40505655	+	Silent	SNP	G	G	A	rs146821149		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr15:40505655G>A	ENST00000287598.6	+	20	2853	c.2658G>A	c.(2656-2658)agG>agA	p.R886R	BUB1B_ENST00000412359.3_Silent_p.R900R	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	886	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGAGTCCAAGGTGTCTGATTC	0.348			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(2656-2658)agG>agA		BUB1 mitotic checkpoint serine/threonine kinase B							142.0	148.0	146.0					15																	40505655		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40505655G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2658G>A	15.37:g.40505655G>A			Somatic				BUB1B_ENST00000412359.3_Silent_p.R900R	p.R886R	NM_001211.5	NP_001202.4	WXS	Illumina GAIIx	Phase_I	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	20	2853	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	886			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.2658G>A	CCDS10053.1																																																																																				0.348	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			42	79	0	0	0	1	0	42	79				
NEURL3	93082	broad.mit.edu	37	2	97164150	97164150	+	RNA	SNP	T	T	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:97164150T>C	ENST00000310865.3	-	0	942							A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 3						Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)										GGCAGCGTGATAGAAGCAGAT	0.607																																						ENST00000310865.3																			0													neuralized E3 ubiquitin protein ligase 3							45.0	49.0	47.0					2																	97164150		2092	4216	6308			93082							g.chr2:97164150T>C		CCDS74541.1, CCDS74542.1	2q11.2	2013-10-24	2013-10-24		ENSG00000163121	ENSG00000163121			25162	protein-coding gene	gene with protein product			"""neuralized homolog 3 (Drosophila) pseudogene"""			15936721	Standard	NM_001285486		Approved	Lincr, LOC93082	uc010yuo.2	Q96EH8	OTTHUMG00000128645		2.37:g.97164150T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	942	-								C9DQJ5|C9DQJ6|C9DQJ7	RNA	SNP	ENST00000310865.3	37																																																																																						0.607	NEURL3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000250521.1	NM_138397		36	63	0	0	0	1	0	36	63				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C			Somatic						NR_003714.1		WXS	Illumina GAIIx	Phase_I					0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	22	0	0	0	1	0	3	22				
SATB2	23314	broad.mit.edu	37	2	200173596	200173596	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:200173596G>A	ENST00000417098.1	-	10	2443	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	SATB2_ENST00000443023.1_Missense_Mutation_p.R484C|SATB2_ENST00000260926.5_Missense_Mutation_p.R543C|SATB2_ENST00000457245.1_Missense_Mutation_p.R543C|SATB2_ENST00000428695.1_Missense_Mutation_p.R425C	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	543					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAGGAAGCGACGGATGGTA	0.577																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1450-1452)Cgc>Tgc		SATB homeobox 2							151.0	120.0	130.0					2																	200173596		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173596G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1627C>T	2.37:g.200173596G>A	ENSP00000401112:p.Arg543Cys		Somatic				SATB2_ENST00000428695.1_Missense_Mutation_p.R425C|SATB2_ENST00000417098.1_Missense_Mutation_p.R543C|SATB2_ENST00000260926.5_Missense_Mutation_p.R543C|SATB2_ENST00000457245.1_Missense_Mutation_p.R543C	p.R484C			WXS	Illumina GAIIx	Phase_I	Q9UPW6	SATB2_HUMAN			9	2915	-			543					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1450C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265646	0.80358	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.56275	0.47;0.48;0.47;0.47;0.47	5.35	4.47	0.54385	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.052811	0.64402	D	0.000001	T	0.66752	0.2821	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.70579	-0.4833	10	0.87932	D	0	-15.2408	14.434	0.67268	0.0704:0.0:0.9296:0.0	.	425;543	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	C	543;484;543;425;543	ENSP00000401112:R543C;ENSP00000388764:R484C;ENSP00000260926:R543C;ENSP00000388581:R425C;ENSP00000405420:R543C	ENSP00000260926:R543C	R	-	1	0	SATB2	199881841	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.234000	0.51320	1.635000	0.50512	0.655000	0.94253	CGC		0.577	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		18	311	0	0	0	1	0	18	311				
NUP153	9972	broad.mit.edu	37	6	17662260	17662260	+	Silent	SNP	T	T	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr6:17662260T>C	ENST00000262077.2	-	10	1256	c.1257A>G	c.(1255-1257)gaA>gaG	p.E419E	NUP153_ENST00000537253.1_Silent_p.E419E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	419					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTCTCGTTGTTCTCTATTTT	0.303																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(1255-1257)gaA>gaG		nucleoporin 153kDa							252.0	254.0	253.0					6																	17662260		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17662260T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1257A>G	6.37:g.17662260T>C			Somatic				NUP153_ENST00000537253.1_Silent_p.E419E	p.E419E	NM_005124.2	NP_005115.2	WXS	Illumina GAIIx	Phase_I	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		10	1256	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	419					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.1257A>G	CCDS4541.1																																																																																				0.303	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			86	137	0	0	0	1	0	86	137				
NCAPH2	29781	broad.mit.edu	37	22	50954874	50954874	+	Splice_Site	SNP	A	A	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr22:50954874A>C	ENST00000420993.2	+	2	230		c.e2-1		NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000395701.3_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TGTTTCTTGCAGCTGGATCAG	0.537																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.e2-1		non-SMC condensin II complex, subunit H2							140.0	120.0	127.0					22																	50954874		2203	4300	6503	SO:0001630	splice_region_variant	29781				chromosome condensation	chromosome|nucleus		g.chr22:50954874A>C	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.109-1A>C	22.37:g.50954874A>C			Somatic				NCAPH2_ENST00000420993.2_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	2	202	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)						B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Splice_Site	SNP	ENST00000420993.2	37		CCDS14094.2	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635620	0.67130	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000299821	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6932	0.62559	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPH2	49301740	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.885000	0.92439	1.928000	0.55862	0.402000	0.26972	.		0.537	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299	Intron	10	51	0	0	0	1	0	10	51				
MSL1	339287	broad.mit.edu	37	17	38289885	38289885	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr17:38289885C>A	ENST00000398532.4	+	7	1970	c.1655C>A	c.(1654-1656)aCc>aAc	p.T552N	MSL1_ENST00000579565.1_Missense_Mutation_p.T289N|MSL1_ENST00000578648.1_Missense_Mutation_p.T536N	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	552	Sufficient for interaction with MSL3 MRG domain.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CCTGAGGTTACCTCATTTTTC	0.433																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(1654-1656)aCc>aAc		male-specific lethal 1 homolog (Drosophila)							52.0	46.0	48.0					17																	38289885		1875	4093	5968	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38289885C>A		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1655C>A	17.37:g.38289885C>A	ENSP00000381543:p.Thr552Asn		Somatic				MSL1_ENST00000579565.1_Missense_Mutation_p.T289N|MSL1_ENST00000578648.1_Missense_Mutation_p.T536N	p.T552N			WXS	Illumina GAIIx	Phase_I	Q68DK7	MSL1_HUMAN			7	1970	+			552					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.1655C>A		.	.	.	.	.	.	.	.	.	.	C	11.85	1.760398	0.31137	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	T	0.45276	0.9	5.75	5.75	0.90469	.	0.053335	0.85682	D	0.000000	T	0.44871	0.1314	N	0.24115	0.695	0.51767	D	0.999935	.	.	.	.	.	.	T	0.30446	-0.9978	8	0.45353	T	0.12	-3.7749	18.7135	0.91667	0.0:1.0:0.0:0.0	.	.	.	.	N	289;552	ENSP00000381543:T552N	ENSP00000341409:T289N	T	+	2	0	MSL1	35543411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.722000	0.61958	2.720000	0.93068	0.555000	0.69702	ACC		0.433	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		4	83	1	0	0.014758	1	0.0150973	4	83				
ACLY	47	broad.mit.edu	37	17	40028034	40028034	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr17:40028034C>T	ENST00000352035.2	-	25	2975	c.2845G>A	c.(2845-2847)Gcc>Acc	p.A949T	ACLY_ENST00000588779.1_5'Flank|ACLY_ENST00000590151.1_Missense_Mutation_p.A949T|ACLY_ENST00000393896.2_Missense_Mutation_p.A939T|ACLY_ENST00000353196.1_Missense_Mutation_p.A939T|ACLY_ENST00000537919.1_Missense_Mutation_p.A678T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	949					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTGTCAAAGGCTTTACTGAAC	0.502																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2845-2847)Gcc>Acc		ATP citrate lyase							136.0	116.0	123.0					17																	40028034		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40028034C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2845G>A	17.37:g.40028034C>T	ENSP00000253792:p.Ala949Thr		Somatic				ACLY_ENST00000393896.2_Missense_Mutation_p.A939T|ACLY_ENST00000537919.1_Missense_Mutation_p.A678T|ACLY_ENST00000353196.1_Missense_Mutation_p.A939T|ACLY_ENST00000590151.1_Missense_Mutation_p.A949T	p.A949T	NM_001096.2	NP_001087.2	WXS	Illumina GAIIx	Phase_I	P53396	ACLY_HUMAN			25	2975	-		Breast(137;0.000143)	949					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.2845G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793081	0.96952	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89552	-1.56;-1.55;-2.53;-1.55	5.95	5.95	0.96441	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.151102	0.64402	N	0.000015	D	0.95909	0.8668	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D	0.76494	0.969;0.997;0.999;0.995;0.969	P;D;D;D;P	0.70716	0.724;0.952;0.952;0.97;0.843	D	0.95985	0.8981	10	0.87932	D	0	.	20.3645	0.98876	0.0:1.0:0.0:0.0	.	678;993;1003;939;949	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	T	949;1003;939;678;939	ENSP00000253792:A949T;ENSP00000345398:A939T;ENSP00000445349:A678T;ENSP00000377474:A939T	ENSP00000253792:A949T	A	-	1	0	ACLY	37281560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.562000	0.82300	2.821000	0.97095	0.561000	0.74099	GCC		0.502	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		47	105	0	0	0	1	0	47	105				
GPR158	57512	broad.mit.edu	37	10	25887796	25887796	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr10:25887796A>C	ENST00000376351.3	+	11	3600	c.3241A>C	c.(3241-3243)Att>Ctt	p.I1081L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1081					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGCCAGTCCATTTTGGAAGA	0.502																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3241-3243)Att>Ctt		G protein-coupled receptor 158							92.0	95.0	94.0					10																	25887796		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887796A>C	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3241A>C	10.37:g.25887796A>C	ENSP00000365529:p.Ile1081Leu		Somatic				GPR158_ENST00000490549.1_3'UTR	p.I1081L	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			11	3600	+			1081					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3241A>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.798088	0.00617	.	.	ENSG00000151025	ENST00000376351	T	0.29397	1.57	5.27	-2.2	0.06994	.	0.956005	0.08660	N	0.912554	T	0.11324	0.0276	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.08179	T	0.78	.	1.662	0.02794	0.4208:0.1707:0.257:0.1515	.	1081	Q5T848	GP158_HUMAN	L	1081	ENSP00000365529:I1081L	ENSP00000365529:I1081L	I	+	1	0	GPR158	25927802	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.029000	0.12329	-0.050000	0.13356	-0.213000	0.12676	ATT		0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		73	203	0	0	0	1	0	73	203				
NUP205	23165	broad.mit.edu	37	7	135307659	135307659	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr7:135307659C>T	ENST00000285968.6	+	31	4491	c.4465C>T	c.(4465-4467)Cat>Tat	p.H1489Y		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1489					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGTGATGGTCATGAGATTGG	0.388																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4465-4467)Cat>Tat		nucleoporin 205kDa							93.0	89.0	91.0					7																	135307659		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135307659C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4465C>T	7.37:g.135307659C>T	ENSP00000285968:p.His1489Tyr		Somatic					p.H1489Y	NM_015135.2	NP_055950.1	WXS	Illumina GAIIx	Phase_I	Q92621	NU205_HUMAN			31	4491	+			1489					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4465C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517663	0.85495	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59653	-0.7414	10	0.66056	D	0.02	-12.7394	18.2858	0.90113	0.0:1.0:0.0:0.0	.	1489	Q92621	NU205_HUMAN	Y	1489	ENSP00000285968:H1489Y	ENSP00000285968:H1489Y	H	+	1	0	NUP205	134958199	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.705000	0.84606	2.386000	0.81285	0.591000	0.81541	CAT		0.388	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			40	134	0	0	0	1	0	40	134				
PPM1B	5495	broad.mit.edu	37	2	44457623	44457623	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:44457623T>G	ENST00000282412.4	+	6	1618	c.1206T>G	c.(1204-1206)aaT>aaG	p.N402K	PPM1B_ENST00000345249.4_Missense_Mutation_p.N115K|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	402					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)				TGAGAATTAATCATAGGGGAA	0.473																																						ENST00000282412.4																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(1204-1206)aaT>aaG		protein phosphatase, Mg2+/Mn2+ dependent, 1B							87.0	93.0	91.0					2																	44457623		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44457623T>G	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	ENST00000282412.4:c.1206T>G	2.37:g.44457623T>G	ENSP00000282412:p.Asn402Lys		Somatic				PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000345249.4_Missense_Mutation_p.N115K	p.N402K	NM_002706.4	NP_002697.1	WXS	Illumina GAIIx	Phase_I	O75688	PPM1B_HUMAN			6	1618	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	402					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.1206T>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107366	0.37145	.	.	ENSG00000138032	ENST00000282412;ENST00000345249	T	0.22539	1.95	5.19	1.54	0.23209	.	0.190945	0.46442	D	0.000297	T	0.10508	0.0257	N	0.19112	0.55	0.80722	D	1	B	0.31318	0.319	B	0.24701	0.055	T	0.21724	-1.0237	10	0.26408	T	0.33	-21.0997	8.3293	0.32175	0.0:0.2356:0.0:0.7644	.	402	O75688	PPM1B_HUMAN	K	402;115	ENSP00000282412:N402K	ENSP00000282412:N402K	N	+	3	2	PPM1B	44311127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.435000	0.44811	0.386000	0.24997	0.482000	0.46254	AAT		0.473	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		21	67	0	0	0	1	0	21	67				
UXS1	80146	broad.mit.edu	37	2	106717553	106717553	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:106717553C>A	ENST00000409501.3	-	12	987	c.930G>T	c.(928-930)gtG>gtT	p.V310V	UXS1_ENST00000409032.1_Silent_p.V142V|UXS1_ENST00000540130.1_Silent_p.V253V|UXS1_ENST00000428048.2_Silent_p.V154V|UXS1_ENST00000283148.7_Silent_p.V315V			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	310					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TCATGAGAGCCACGAGGCCAT	0.557																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(943-945)gtG>gtT		UDP-glucuronate decarboxylase 1							87.0	91.0	90.0					2																	106717553		2079	4228	6307	SO:0001819	synonymous_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106717553C>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.930G>T	2.37:g.106717553C>A			Somatic				UXS1_ENST00000409032.1_Silent_p.V142V|UXS1_ENST00000540130.1_Silent_p.V253V|UXS1_ENST00000428048.2_Silent_p.V154V|UXS1_ENST00000409501.3_Silent_p.V310V	p.V315V	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	WXS	Illumina GAIIx	Phase_I	Q8NBZ7	UXS1_HUMAN			12	1042	-			310					Q8NBX3|Q9H5C2	Silent	SNP	ENST00000409501.3	37	c.945G>T	CCDS46378.1																																																																																				0.557	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		47	262	1	0	2.27781e-18	1	2.56614e-18	47	262				
RPLP0P2	113157	broad.mit.edu	37	11	61404307	61404307	+	RNA	SNP	G	G	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr11:61404307G>T	ENST00000496593.1	+	0	911					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		GCAAGGCCGTGGTGCTGATGG	0.552																																						ENST00000496593.1																			0																																																			113157							g.chr11:61404307G>T	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404307G>T			Somatic						NR_002775.2		WXS	Illumina GAIIx	Phase_I					0	911	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		16	46	1	0	3.45872e-05	1	3.70875e-05	16	46				
PCYOX1	51449	broad.mit.edu	37	2	70502098	70502098	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:70502098C>T	ENST00000433351.2	+	4	530	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90C|PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168C|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91C	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	168					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AAGGATCTACCGCTACCAGTC	0.408																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(502-504)Cgc>Tgc		prenylcysteine oxidase 1							115.0	107.0	110.0					2																	70502098		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70502098C>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.502C>T	2.37:g.70502098C>T	ENSP00000387654:p.Arg168Cys		Somatic				PCYOX1_ENST00000264441.5_Missense_Mutation_p.R168C|PCYOX1_ENST00000545138.1_Missense_Mutation_p.R90C|PCYOX1_ENST00000505044.2_Missense_Mutation_p.R91C	p.R168C	NM_016297.3	NP_057381.3	WXS	Illumina GAIIx	Phase_I	Q9UHG3	PCYOX_HUMAN			4	530	+			168					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.502C>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105183	0.77096	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	T;T;T;T;T;T;T	0.15834	2.39;2.95;2.39;2.95;2.95;2.39;2.95	5.4	5.4	0.78164	Prenylcysteine lyase (1);	0.047613	0.85682	D	0.000000	T	0.42698	0.1214	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.70935	0.964;0.971	T	0.21314	-1.0249	10	0.72032	D	0.01	-9.0745	17.9005	0.88902	0.0:1.0:0.0:0.0	.	150;168	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	C	91;91;91;168;168;91;90	ENSP00000404327:R91C;ENSP00000441566:R91C;ENSP00000413178:R91C;ENSP00000387654:R168C;ENSP00000264441:R168C;ENSP00000408751:R91C;ENSP00000439916:R90C	ENSP00000264441:R168C	R	+	1	0	PCYOX1	70355602	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.543000	0.53633	2.811000	0.96726	0.555000	0.69702	CGC		0.408	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		7	221	0	0	0	1	0	7	221				
DNAJB12	54788	broad.mit.edu	37	10	74100574	74100574	+	Silent	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr10:74100574C>T	ENST00000444643.2	-	5	1028	c.696G>A	c.(694-696)agG>agA	p.R232R	DNAJB12_ENST00000461919.1_Silent_p.R27R|DNAJB12_ENST00000338820.3_Silent_p.R266R|DNAJB12_ENST00000394903.2_Silent_p.R266R			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	232						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TGCGGTCCTGCCTTTGCTGGT	0.642																																						ENST00000338820.3																			0				endometrium(1)|large_intestine(2)|skin(1)	4						c.(796-798)agG>agA		DnaJ (Hsp40) homolog, subfamily B, member 12							112.0	77.0	89.0					10																	74100574		2203	4300	6503	SO:0001819	synonymous_variant	54788				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr10:74100574C>T	AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.696G>A	10.37:g.74100574C>T			Somatic				DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Silent_p.R266R|DNAJB12_ENST00000444643.2_Silent_p.R232R	p.R266R	NM_001002762.2	NP_001002762.2	WXS	Illumina GAIIx	Phase_I	Q9NXW2	DJB12_HUMAN			5	947	-			232					B7Z7I3|Q9H6H0	Silent	SNP	ENST00000444643.2	37	c.798G>A																																																																																					0.642	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			15	28	0	0	0	1	0	15	28				
GRID1	2894	broad.mit.edu	37	10	87966299	87966299	+	Silent	SNP	G	G	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr10:87966299G>C	ENST00000327946.7	-	3	427	c.342C>G	c.(340-342)ctC>ctG	p.L114L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	114					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCTGGACAAAGAGGTGTGGGA	0.632										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(340-342)ctC>ctG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						162.0	101.0	122.0					10																	87966299		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87966299G>C	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.342C>G	10.37:g.87966299G>C		Multiple Myeloma(13;0.14)	Somatic					p.L114L	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			3	427	-			114					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.342C>G	CCDS31236.1																																																																																				0.632	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		50	117	0	0	0	1	0	50	117				
TRIM33	51592	broad.mit.edu	37	1	114967253	114967253	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr1:114967253C>A	ENST00000358465.2	-	10	1903	c.1820G>T	c.(1819-1821)gGc>gTc	p.G607V	TRIM33_ENST00000450349.2_Missense_Mutation_p.G215V|TRIM33_ENST00000369543.2_Missense_Mutation_p.G607V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	607					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATTGAGGGCCGCTGTGCCT	0.433			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1819-1821)gGc>gTc		tripartite motif containing 33							131.0	120.0	124.0					1																	114967253		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114967253C>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1820G>T	1.37:g.114967253C>A	ENSP00000351250:p.Gly607Val		Somatic				TRIM33_ENST00000450349.2_Missense_Mutation_p.G215V|TRIM33_ENST00000369543.2_Missense_Mutation_p.G607V	p.G607V	NM_015906.3	NP_056990.3	WXS	Illumina GAIIx	Phase_I	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1903	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	607					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1820G>T	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.87|10.87	1.472895|1.472895	0.26423|0.26423	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543;ENST00000450349	.|T;T;T	.|0.75704	.|-0.78;-0.69;-0.96	5.86|5.86	4.94|4.94	0.65067|0.65067	.|.	.|0.139770	.|0.64402	.|D	.|0.000004	T|T	0.68924|0.68924	0.3054|0.3054	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;D;D	.|0.57257	.|0.012;0.013;0.979;0.964	.|B;B;P;P	.|0.61658	.|0.008;0.011;0.892;0.784	T|T	0.67465|0.67465	-0.5664|-0.5664	5|10	.|0.13470	.|T	.|0.59	-2.0224|-2.0224	17.2833|17.2833	0.87134|0.87134	0.0:0.8748:0.1252:0.0|0.0:0.8748:0.1252:0.0	.|.	.|215;215;607;607	.|E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.|.;.;.;TRI33_HUMAN	S|V	344|607;607;215	.|ENSP00000351250:G607V;ENSP00000358556:G607V;ENSP00000412077:G215V	.|ENSP00000351250:G607V	A|G	-|-	1|2	0|0	TRIM33|TRIM33	114768776|114768776	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.958000|0.958000	0.62258|0.62258	5.112000|5.112000	0.64634|0.64634	1.453000|1.453000	0.47775|0.47775	0.650000|0.650000	0.86243|0.86243	GCC|GGC		0.433	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		61	130	1	0	9.12251e-31	1	1.05442e-30	61	130				
SLIT2	9353	broad.mit.edu	37	4	20599967	20599967	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr4:20599967G>A	ENST00000504154.1	+	33	3893	c.3641G>A	c.(3640-3642)cGt>cAt	p.R1214H	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1214	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TATCGGGGGCGTGTTCGTGCC	0.473																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(3640-3642)cGt>cAt		slit homolog 2 (Drosophila)							153.0	142.0	146.0					4																	20599967		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20599967G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3641G>A	4.37:g.20599967G>A	ENSP00000422591:p.Arg1214His		Somatic				SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227H	p.R1214H	NM_004787.1	NP_004778.1	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			33	3893	+			1214			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3641G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	g	9.343	1.063602	0.20067	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.161948	0.56097	D	0.000027	T	0.54679	0.1873	N	0.05124	-0.11	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.53542	-0.8424	10	0.07482	T	0.82	.	12.8221	0.57698	0.0748:0.0:0.9252:0.0	.	1206;1214	O94813-3;O94813	.;SLIT2_HUMAN	H	1206;1214;1227;1210;1210	ENSP00000427548:R1206H;ENSP00000422591:R1214H;ENSP00000273739:R1227H;ENSP00000422261:R1210H	ENSP00000273739:R1227H	R	+	2	0	SLIT2	20209065	1.000000	0.71417	0.693000	0.30195	0.802000	0.45316	7.625000	0.83145	2.678000	0.91216	0.644000	0.83932	CGT		0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			82	113	0	0	0	1	0	82	113				
LDLR	3949	broad.mit.edu	37	19	11224382	11224382	+	Silent	SNP	G	G	A	rs367655096		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr19:11224382G>A	ENST00000558518.1	+	10	1717	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	LDLR_ENST00000545707.1_Silent_p.T383T|LDLR_ENST00000557933.1_Silent_p.T510T|LDLR_ENST00000535915.1_Silent_p.T469T|LDLR_ENST00000455727.2_Silent_p.T342T|LDLR_ENST00000558013.1_Silent_p.T510T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	510					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGAGGAAAACGTTATTCAGGG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21469	0.0		0.0	False		,,,				2504	0.0				GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CD005364	LDLR	D		c.(1528-1530)acG>acA		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	117.0	93.0	101.0		1530,1530,1407,1026,1167,1149	-9.4	0.0	19		101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LDLR	NM_000527.4,NM_001195798.1,NM_001195799.1,NM_001195800.1,NM_001195802.1,NM_001195803.1	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	510/861,510/859,469/820,342/693,389/740,383/683	11224382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224382G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1530G>A	19.37:g.11224382G>A			Somatic				LDLR_ENST00000455727.2_Silent_p.T342T|LDLR_ENST00000558013.1_Silent_p.T510T|LDLR_ENST00000535915.1_Silent_p.T469T|LDLR_ENST00000557933.1_Silent_p.T510T|LDLR_ENST00000545707.1_Silent_p.T383T	p.T510T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	WXS	Illumina GAIIx	Phase_I	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1717	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	510					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1530G>A	CCDS12254.1																																																																																				0.582	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			19	47	0	0	0	1	0	19	47				
CYTH1	9267	broad.mit.edu	37	17	76692093	76692093	+	Splice_Site	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr17:76692093T>A	ENST00000446868.3	-	10	882		c.e10-2		CYTH1_ENST00000589296.1_Intron|RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000585509.1_Splice_Site|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000591455.1_Intron|CYTH1_ENST00000589297.1_Splice_Site			Q15438	CYH1_HUMAN	cytohesin 1						establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ACATACCTCCTGGAGTTTGGG	0.388																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.e10-2		cytohesin 1							81.0	80.0	80.0					17																	76692093		1937	4134	6071	SO:0001630	splice_region_variant	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76692093T>A	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.812-2A>T	17.37:g.76692093T>A			Somatic				CYTH1_ENST00000585509.1_Splice_Site|CYTH1_ENST00000446868.3_Splice_Site|CYTH1_ENST00000591455.1_Intron|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589296.1_Intron				WXS	Illumina GAIIx	Phase_I	Q15438	CYH1_HUMAN			10	1327	-								A6NFW7|B7Z1T4|Q9P123|Q9P124	Splice_Site	SNP	ENST00000446868.3	37			.	.	.	.	.	.	.	.	.	.	T	35	5.566275	0.96540	.	.	ENSG00000108669	ENST00000446868	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYTH1	74203688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.639000	0.67868	2.254000	0.74563	0.533000	0.62120	.		0.388	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	Intron	42	84	0	0	0	1	0	42	84				
AEBP2	121536	broad.mit.edu	37	12	19646732	19646732	+	Splice_Site	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr12:19646732A>T	ENST00000398864.3	+	4	1013		c.e4-1		AEBP2_ENST00000360995.4_Splice_Site|AEBP2_ENST00000541908.1_Splice_Site|AEBP2_ENST00000266508.9_Splice_Site	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2						chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATTTTCTTTTAGTGTGTTGTT	0.418																																						ENST00000266508.9																			0				ovary(1)	1						c.e4-1		AE binding protein 2							61.0	62.0	62.0					12																	19646732		1921	4132	6053	SO:0001630	splice_region_variant	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19646732A>T		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.988-1A>T	12.37:g.19646732A>T			Somatic				AEBP2_ENST00000360995.4_Splice_Site|AEBP2_ENST00000541908.1_Splice_Site|AEBP2_ENST00000398864.3_Splice_Site		NM_153207.4	NP_694939.2	WXS	Illumina GAIIx	Phase_I	Q6ZN18	AEBP2_HUMAN			4	988	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)							Q59FS5|Q6ZN62|Q96BG3	Splice_Site	SNP	ENST00000398864.3	37		CCDS44841.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215381	0.79352	.	.	ENSG00000139154	ENST00000538425;ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2972	0.73919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AEBP2	19537999	1.000000	0.71417	0.926000	0.36857	0.882000	0.50991	8.170000	0.89673	2.195000	0.70347	0.528000	0.53228	.		0.418	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207	Intron	8	61	0	0	0	1	0	8	61				
RHOBTB1	9886	broad.mit.edu	37	10	62670706	62670706	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr10:62670706A>T	ENST00000337910.5	-	4	572	c.235T>A	c.(235-237)Tct>Act	p.S79T	RNU2-72P_ENST00000411175.1_RNA|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S79T	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	79	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGCCTGAGAGAAACACTCACT	0.488																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(235-237)Tct>Act		Rho-related BTB domain containing 1							164.0	127.0	140.0					10																	62670706		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62670706A>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.235T>A	10.37:g.62670706A>T	ENSP00000338671:p.Ser79Thr		Somatic				RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S79T	p.S79T	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	WXS	Illumina GAIIx	Phase_I	O94844	RHBT1_HUMAN			4	572	-	Prostate(12;0.0112)		79			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.235T>A	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	A	32	5.110390	0.94292	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	T;T	0.76060	-0.99;-0.99	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	L	0.38649	1.16	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.82448	-0.0452	10	0.62326	D	0.03	.	15.9815	0.80114	1.0:0.0:0.0:0.0	.	79	O94844	RHBT1_HUMAN	T	79	ENSP00000350595:S79T;ENSP00000338671:S79T	ENSP00000338671:S79T	S	-	1	0	RHOBTB1	62340712	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	9.225000	0.95219	2.174000	0.68829	0.454000	0.30748	TCT		0.488	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			40	104	0	0	0	1	0	40	104				
WDR46	9277	broad.mit.edu	37	6	33254931	33254931	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr6:33254931C>T	ENST00000374617.4	-	9	1308	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	318							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCGAGCCGCCCAGCTCGAGCA	0.502																																						ENST00000374617.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						c.(952-954)Ggg>Agg		WD repeat domain 46							96.0	96.0	96.0					6																	33254931		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33254931C>T	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.952G>A	6.37:g.33254931C>T	ENSP00000363746:p.Gly318Arg		Somatic					p.G318R	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	WXS	Illumina GAIIx	Phase_I	O15213	WDR46_HUMAN			9	1308	-			318					A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.952G>A	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770513	0.90108	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.19669	4.86;2.13	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.53158	-0.8478	10	0.87932	D	0	-15.8324	15.7036	0.77560	0.0:1.0:0.0:0.0	.	264;318	B4DP15;O15213	.;WDR46_HUMAN	R	318;245	ENSP00000363746:G318R;ENSP00000405568:G245R	ENSP00000363746:G318R	G	-	1	0	WDR46	33362909	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.535000	0.73838	2.555000	0.86185	0.549000	0.68633	GGG		0.502	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		56	150	0	0	0	1	0	56	150				
SHROOM2	357	broad.mit.edu	37	X	9914789	9914789	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chrX:9914789C>T	ENST00000380913.3	+	10	4753	c.4663C>T	c.(4663-4665)Cgc>Tgc	p.R1555C	SHROOM2_ENST00000418909.2_Missense_Mutation_p.R390C	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1555	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.R1555C(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTGGACCGCCGCGAGCGCAT	0.547																																						ENST00000380913.3																			1	Substitution - Missense(1)	p.R1555C(1)	endometrium(1)	breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4663-4665)Cgc>Tgc		shroom family member 2							44.0	40.0	41.0					X																	9914789		2203	4299	6502	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9914789C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4663C>T	X.37:g.9914789C>T	ENSP00000370299:p.Arg1555Cys		Somatic				SHROOM2_ENST00000418909.2_Missense_Mutation_p.R390C	p.R1555C	NM_001649.2	NP_001640.1	WXS	Illumina GAIIx	Phase_I	Q13796	SHRM2_HUMAN			10	4753	+		Hepatocellular(5;0.000888)	1555			ASD2.		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.4663C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962301	0.53400	.	.	ENSG00000146950	ENST00000380913;ENST00000418909	T;T	0.47528	0.84;0.84	4.58	1.44	0.22558	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.71558	0.3354	M	0.89840	3.065	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.77086	-0.2718	10	0.87932	D	0	-27.7349	13.1999	0.59761	0.5244:0.4756:0.0:0.0	.	389;1555	Q68DU3;Q13796	.;SHRM2_HUMAN	C	1555;390	ENSP00000370299:R1555C;ENSP00000415229:R390C	ENSP00000370299:R1555C	R	+	1	0	SHROOM2	9874789	0.381000	0.25140	0.542000	0.28115	0.609000	0.37215	0.811000	0.27198	0.306000	0.22856	-0.325000	0.08501	CGC		0.547	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		8	18	0	0	0	1	0	8	18				
CSTF3	1479	broad.mit.edu	37	11	33123767	33123767	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr11:33123767C>T	ENST00000323959.4	-	10	921	c.782G>A	c.(781-783)aGc>aAc	p.S261N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	261					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AAGAGGGTTGCTCTTTTCCCA	0.433																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(781-783)aGc>aAc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							183.0	168.0	173.0					11																	33123767		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33123767C>T	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.782G>A	11.37:g.33123767C>T	ENSP00000315791:p.Ser261Asn		Somatic				TCP11L1_ENST00000324357.9_Intron	p.S261N	NM_001326.2	NP_001317.1	WXS	Illumina GAIIx	Phase_I	Q12996	CSTF3_HUMAN			10	921	-			261					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.782G>A	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797836	0.70567	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36340	1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.82517	2.595	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44605	-0.9317	10	0.46703	T	0.11	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	261	Q12996	CSTF3_HUMAN	N	261;194	ENSP00000315791:S261N	ENSP00000315791:S261N	S	-	2	0	CSTF3	33080343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.813000	0.86123	2.728000	0.93425	0.591000	0.81541	AGC		0.433	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		27	104	0	0	0	1	0	27	104				
WDR66	144406	broad.mit.edu	37	12	122369710	122369710	+	Missense_Mutation	SNP	A	A	T	rs556933458	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr12:122369710A>T	ENST00000288912.4	+	4	1660	c.806A>T	c.(805-807)gAa>gTa	p.E269V	WDR66_ENST00000397454.2_Missense_Mutation_p.E269V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	269							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATTCGAGAGGAAAGGCAGAGA	0.453																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(805-807)gAa>gTa		WD repeat domain 66							147.0	134.0	138.0					12																	122369710		1958	4164	6122	SO:0001583	missense	144406						calcium ion binding	g.chr12:122369710A>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.806A>T	12.37:g.122369710A>T	ENSP00000288912:p.Glu269Val		Somatic				WDR66_ENST00000397454.2_Missense_Mutation_p.E269V	p.E269V	NM_144668.5	NP_653269.3	WXS	Illumina GAIIx	Phase_I	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	4	1660	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		269					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.806A>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983723	0.53827	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.05786	3.4;3.39	4.82	3.66	0.41972	.	0.836583	0.10857	N	0.626556	T	0.11665	0.0284	M	0.71581	2.175	0.20489	N	0.999899	P	0.40794	0.729	B	0.42555	0.391	T	0.15607	-1.0431	10	0.35671	T	0.21	.	9.6826	0.40078	0.9147:0.0:0.0852:0.0	.	269	Q8TBY9	WDR66_HUMAN	V	269	ENSP00000288912:E269V;ENSP00000380595:E269V	ENSP00000288912:E269V	E	+	2	0	WDR66	120854093	0.599000	0.26891	0.002000	0.10522	0.942000	0.58702	1.772000	0.38552	0.680000	0.31366	0.402000	0.26972	GAA		0.453	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		45	108	0	0	0	1	0	45	108				
TMEM214	54867	broad.mit.edu	37	2	27256957	27256957	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:27256957C>A	ENST00000238788.9	+	2	236	c.174C>A	c.(172-174)acC>acA	p.T58T	TMEM214_ENST00000404032.3_Silent_p.T58T	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	58					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCACAAGCACCCTTTATGAGC	0.547																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(172-174)acC>acA		transmembrane protein 214							101.0	104.0	103.0					2																	27256957		1945	4143	6088	SO:0001819	synonymous_variant	54867					integral to membrane	protein binding	g.chr2:27256957C>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.174C>A	2.37:g.27256957C>A			Somatic				TMEM214_ENST00000404032.3_Silent_p.T58T	p.T58T	NM_017727.4	NP_060197.4	WXS	Illumina GAIIx	Phase_I	Q6NUQ4	TM214_HUMAN			2	236	+			58					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	c.174C>A	CCDS42664.1																																																																																				0.547	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		91	160	1	0	7.22319e-40	1	8.45874e-40	91	160				
CTPS1	1503	broad.mit.edu	37	1	41471734	41471734	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr1:41471734A>G	ENST00000372621.4	+	13	1772	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A	CTPS1_ENST00000372616.1_Missense_Mutation_p.T422A|CTPS1_ENST00000541520.1_Missense_Mutation_p.T191A	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TGCCAATTCTACAGAGTTTGA	0.408																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1264-1266)Aca>Gca		CTP synthase 1	L-Glutamine(DB00130)						125.0	119.0	121.0					1																	41471734		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41471734A>G	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1264A>G	1.37:g.41471734A>G	ENSP00000361704:p.Thr422Ala		Somatic				CTPS1_ENST00000541520.1_Missense_Mutation_p.T191A|CTPS1_ENST00000372616.1_Missense_Mutation_p.T422A	p.T422A	NM_001905.2	NP_001896.2	WXS	Illumina GAIIx	Phase_I	P17812	PYRG1_HUMAN			13	1772	+			422			Glutamine amidotransferase type-1.			Missense_Mutation	SNP	ENST00000372621.4	37	c.1264A>G	CCDS459.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630830	0.46944	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.45668	0.92;0.89;0.92	5.95	4.83	0.62350	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.39898	1.24	0.80722	D	1	B;B	0.22604	0.009;0.072	B;B	0.21917	0.014;0.037	T	0.07481	-1.0770	10	0.17832	T	0.49	.	10.9519	0.47334	0.9265:0.0:0.0735:0.0	.	191;422	B4DR64;P17812	.;PYRG1_HUMAN	A	422;191;422	ENSP00000361704:T422A;ENSP00000442646:T191A;ENSP00000361699:T422A	ENSP00000361699:T422A	T	+	1	0	CTPS	41244321	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.692000	0.91284	1.081000	0.41110	0.533000	0.62120	ACA		0.408	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		37	117	0	0	0	1	0	37	117				
POM121C	100101267	broad.mit.edu	37	7	75054987	75054987	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr7:75054987C>G	ENST00000257665.5	-	7	1302	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000453279.2_Missense_Mutation_p.E193Q			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	435	Pore side. {ECO:0000255}.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CACAGCTCTTCTTCTCTGTTG	0.453																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(577-579)Gaa>Caa		POM121 transmembrane nucleoporin C							53.0	58.0	56.0					7																	75054987		2201	4297	6498	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75054987C>G		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1303G>C	7.37:g.75054987C>G	ENSP00000257665:p.Glu435Gln		Somatic				POM121C_ENST00000257665.5_Missense_Mutation_p.E435Q|POM121C_ENST00000473168.1_5'UTR	p.E193Q	NM_001099415.1	NP_001092885.1	WXS	Illumina GAIIx	Phase_I	A8CG34	P121C_HUMAN			9	1441	-			435			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.577G>C		.	.	.	.	.	.	.	.	.	.	C	6.040	0.375715	0.11409	.	.	ENSG00000135213	ENST00000257665;ENST00000453279;ENST00000439629	T;T;T	0.14766	2.48;2.48;2.48	3.46	3.46	0.39613	.	0.182425	0.26045	N	0.026672	T	0.14874	0.0359	L	0.54323	1.7	0.80722	D	1	B	0.26935	0.164	B	0.25506	0.061	T	0.05920	-1.0856	10	0.66056	D	0.02	.	12.0262	0.53371	0.0:1.0:0.0:0.0	.	435	A8CG34	P121C_HUMAN	Q	435;193;65	ENSP00000257665:E435Q;ENSP00000414208:E193Q;ENSP00000410033:E65Q	ENSP00000257665:E435Q	E	-	1	0	POM121C	74892923	1.000000	0.71417	0.944000	0.38274	0.035000	0.12851	3.005000	0.49521	1.641000	0.50575	0.195000	0.17529	GAA		0.453	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		11	21	0	0	0	1	0	11	21				
FCAR	2204	broad.mit.edu	37	19	55399613	55399613	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr19:55399613C>T	ENST00000355524.3	+	4	611	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	FCAR_ENST00000391726.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.P92S|FCAR_ENST00000359272.4_Missense_Mutation_p.P189S|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.P201S|FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391725.3_Intron|CTB-61M7.2_ENST00000594721.1_lincRNA	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	201					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAACAGGAGCCCCTACCTGTG	0.582																																						ENST00000355524.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(601-603)Ccc>Tcc		Fc fragment of IgA, receptor for							76.0	66.0	69.0					19																	55399613		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55399613C>T	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.601C>T	19.37:g.55399613C>T	ENSP00000347714:p.Pro201Ser		Somatic				FCAR_ENST00000359272.4_Missense_Mutation_p.P189S|FCAR_ENST00000469767.1_Missense_Mutation_p.P201S|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000353758.4_Missense_Mutation_p.P92S|FCAR_ENST00000482092.2_Intron	p.P201S	NM_002000.2	NP_001991.1	WXS	Illumina GAIIx	Phase_I	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	4	611	+			201					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.601C>T	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326258	0.41197	.	.	ENSG00000186431	ENST00000433231;ENST00000355524;ENST00000353758;ENST00000359272	T;T;T	0.00873	5.59;5.59;5.59	2.86	2.86	0.33363	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.34777	N	0.003689	T	0.03178	0.0093	L	0.56199	1.76	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;0.996;0.996;1.0	D;D;D;D	0.91635	0.981;0.968;0.956;0.999	T	0.20472	-1.0274	10	0.66056	D	0.02	.	9.3833	0.38327	0.0:1.0:0.0:0.0	.	92;189;201;201	Q92592;Q9UEK0;P24071;P24071-4	.;.;FCAR_HUMAN;.	S	201;201;92;189	ENSP00000347714:P201S;ENSP00000338058:P92S;ENSP00000352218:P189S	ENSP00000338058:P92S	P	+	1	0	FCAR	60091425	0.138000	0.22547	0.266000	0.24541	0.039000	0.13416	2.284000	0.43478	1.890000	0.54733	0.563000	0.77884	CCC		0.582	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		8	27	0	0	0	1	0	8	27				
ESPNP	284729	broad.mit.edu	37	1	17023321	17023321	+	RNA	SNP	T	T	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr1:17023321T>G	ENST00000492551.1	-	0	1626					NR_026567.1				espin pseudogene																		GTCAGCCCCTTGCTCTGTGGC	0.637																																						ENST00000492551.1																			0																																																			284729							g.chr1:17023321T>G	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023321T>G			Somatic						NR_026567.1		WXS	Illumina GAIIx	Phase_I					0	1626	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.637	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	57	0	0	0	1	0	4	57				
VHL	7428	broad.mit.edu	37	3	10191488	10191488	+	Nonsense_Mutation	SNP	C	C	T	rs5030818		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr3:10191488C>T	ENST00000256474.2	+	3	1321	c.481C>T	c.(481-483)Cga>Tga	p.R161*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.R120*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	161	Interaction with Elongin BC complex.		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040}.|R -> Q (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R161*(13)|p.E160fs*9(2)|p.R161del(1)|p.R161fs*13(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161fs*9(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTGAAAGAGCGATGCCTCCA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		21	Substitution - Nonsense(13)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Deletion - In frame(1)	p.R161*(13)|p.E160fs*9(2)|p.R161del(1)|p.R161fs*13(1)|p.?fs(1)|p.L158fs*6(1)|p.E160fs*13(1)|p.R161fs*9(1)	kidney(17)|soft_tissue(2)|paratesticular_tissues(1)|pancreas(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM941381|CM961432	VHL	M	rs5030818	c.(481-483)Cga>Tga		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							91.0	83.0	86.0					3																	10191488		2203	4300	6503	SO:0001587	stop_gained	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191488C>T	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.481C>T	3.37:g.10191488C>T	ENSP00000256474:p.Arg161*		Somatic				VHL_ENST00000345392.2_Nonsense_Mutation_p.R120*|VHL_ENST00000477538.1_3'UTR	p.R161*	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1321	+			161		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II).	Interaction with Elongin BC complex.		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	c.481C>T	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829386	0.71258	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.86	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8766	11.9485	0.52942	0.3106:0.6894:0.0:0.0	rs5030818	.	.	.	X	161;120;79	.	ENSP00000256474:R161X	R	+	1	2	VHL	10166488	0.997000	0.39634	0.933000	0.37362	0.704000	0.40688	1.161000	0.31773	1.416000	0.47057	-0.122000	0.15005	CGA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		18	38	0	0	0	1	0	18	38				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																197331							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G			Somatic				TUBB8P7_ENST00000564451.1_RNA				WXS	Illumina GAIIx	Phase_I					0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	88	0	0	0	1	0	4	88				
WDR83	84292	broad.mit.edu	37	19	12783897	12783897	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr19:12783897T>A	ENST00000418543.3	+	9	999	c.650T>A	c.(649-651)cTc>cAc	p.L217H	WDR83_ENST00000242796.4_Missense_Mutation_p.L217H|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	217					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						ACATTGCGGCTCCTGGACAAA	0.657																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(649-651)cTc>cAc		WD repeat domain 83							63.0	69.0	67.0					19																	12783897		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12783897T>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.650T>A	19.37:g.12783897T>A	ENSP00000402653:p.Leu217His		Somatic				WDR83_ENST00000242796.4_Missense_Mutation_p.L217H	p.L217H	NM_001099737.2	NP_001093207.1	WXS	Illumina GAIIx	Phase_I	Q9BRX9	WDR83_HUMAN			9	999	+			217					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.650T>A	CCDS12275.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.675017|4.675017	0.88445|0.88445	.|.	.|.	ENSG00000123154|ENSG00000123154	ENST00000418543;ENST00000242796|ENST00000547797	D;D|.	0.84516|.	-1.86;-1.86|.	5.43|5.43	5.43|5.43	0.79202|0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88727|0.88727	0.6515|0.6515	H|H	0.98664|0.98664	4.295|4.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.92854|0.92854	0.6300|0.6300	10|5	0.87932|.	D|.	0|.	.|.	14.4605|14.4605	0.67445|0.67445	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	217|.	Q9BRX9|.	WDR83_HUMAN|.	H|T	217|149	ENSP00000402653:L217H;ENSP00000242796:L217H|.	ENSP00000242796:L217H|.	L|S	+|+	2|1	0|0	WDR83|WDR83	12644897|12644897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.392000|7.392000	0.79840|0.79840	2.061000|2.061000	0.61500|0.61500	0.459000|0.459000	0.35465|0.35465	CTC|TCC		0.657	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		42	86	0	0	0	1	0	42	86				
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		4	Substitution - Nonsense(4)	p.R819*(2)|p.R1322*(2)	lung(4)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(3964-3966)Cga>Tga		SET domain containing 2							104.0	98.0	100.0					3																	47162162		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162162G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3964C>T	3.37:g.47162162G>A	ENSP00000386759:p.Arg1322*		Somatic					p.R1322*	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4006	-		Acute lymphoblastic leukemia(5;0.0169)	1322					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.3964C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	39	7.350623	0.98228	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.32	4.38	0.52667	.	0.000000	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6621	0.68879	0.0:0.0:0.779:0.221	.	.	.	.	X	1322;1322;1322;1278	.	ENSP00000386759:R1322X	R	-	1	2	SETD2	47137166	0.881000	0.30235	0.996000	0.52242	0.962000	0.63368	1.783000	0.38664	2.770000	0.95276	0.563000	0.77884	CGA		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		57	106	0	0	0	1	0	57	106				
MAEA	10296	broad.mit.edu	37	4	1305934	1305934	+	Silent	SNP	C	C	T	rs199554247		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr4:1305934C>T	ENST00000303400.4	+	2	300	c.237C>T	c.(235-237)agC>agT	p.S79S	MAEA_ENST00000505839.1_Silent_p.S31S|MAEA_ENST00000452175.2_Silent_p.S68S|MAEA_ENST00000505177.2_Silent_p.S79S|MAEA_ENST00000264750.6_Silent_p.S79S|MAEA_ENST00000510794.1_Silent_p.S78S|MAEA_ENST00000514708.1_Silent_p.S79S	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	79	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AGAAGCTCAGCGTCCTCAAGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18208	0.001		0.0	False		,,,				2504	0.0					ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(235-237)agC>agT		macrophage erythroblast attacher							37.0	39.0	38.0					4																	1305934		2203	4300	6503	SO:0001819	synonymous_variant	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1305934C>T	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.237C>T	4.37:g.1305934C>T			Somatic				MAEA_ENST00000264750.6_Silent_p.S79S|MAEA_ENST00000510794.1_Silent_p.S78S|MAEA_ENST00000505177.2_Silent_p.S79S|MAEA_ENST00000505839.1_Silent_p.S31S|MAEA_ENST00000514708.1_Silent_p.S79S|MAEA_ENST00000452175.2_Silent_p.S68S	p.S79S	NM_001017405.1	NP_001017405.1	WXS	Illumina GAIIx	Phase_I	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		2	300	+			79			Extracellular and involved in cell to cell contact.		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Silent	SNP	ENST00000303400.4	37	c.237C>T	CCDS33936.1																																																																																				0.622	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		15	28	0	0	0	1	0	15	28				
TSHZ2	128553	broad.mit.edu	37	20	51870416	51870416	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr20:51870416G>A	ENST00000371497.5	+	2	1306	c.419G>A	c.(418-420)gGc>gAc	p.G140D	TSHZ2_ENST00000329613.6_Missense_Mutation_p.G137D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G137D|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	140					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TACTGGTCAGGCCTGGGCCTT	0.512																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(418-420)gGc>gAc		teashirt zinc finger homeobox 2							82.0	76.0	78.0					20																	51870416		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870416G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.419G>A	20.37:g.51870416G>A	ENSP00000360552:p.Gly140Asp		Somatic				TSHZ2_ENST00000329613.6_Missense_Mutation_p.G137D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.G137D	p.G140D	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina GAIIx	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1306	+			140					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.419G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818639	0.50633	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.13778	2.56;2.56	5.7	5.7	0.88788	.	0.049433	0.85682	D	0.000000	T	0.21718	0.0523	L	0.47716	1.5	0.50467	D	0.999879	D	0.57899	0.981	P	0.49637	0.617	T	0.00880	-1.1529	10	0.21540	T	0.41	-16.2423	19.8272	0.96622	0.0:0.0:1.0:0.0	.	140	Q9NRE2	TSH2_HUMAN	D	140;137	ENSP00000360552:G140D;ENSP00000333114:G137D	ENSP00000333114:G137D	G	+	2	0	TSHZ2	51303823	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.236000	0.78154	2.685000	0.91497	0.643000	0.83706	GGC		0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		14	220	0	0	0	1	0	14	220				
TRIM3	10612	broad.mit.edu	37	11	6479378	6479378	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr11:6479378C>T	ENST00000525074.1	-	3	674	c.280G>A	c.(280-282)Gat>Aat	p.D94N	TRIM3_ENST00000345851.3_Missense_Mutation_p.D94N|TRIM3_ENST00000537602.1_Missense_Mutation_p.D94N|TRIM3_ENST00000359518.3_Missense_Mutation_p.D94N|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000529058.1_5'Flank	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	94					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCCATCAGGTGCCTGC	0.647																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(280-282)Gat>Aat		tripartite motif containing 3							47.0	49.0	49.0					11																	6479378		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6479378C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.280G>A	11.37:g.6479378C>T	ENSP00000433102:p.Asp94Asn		Somatic				TRIM3_ENST00000345851.3_Missense_Mutation_p.D94N|TRIM3_ENST00000359518.3_Missense_Mutation_p.D94N|TRIM3_ENST00000537602.1_Missense_Mutation_p.D94N|TRIM3_ENST00000536344.1_5'UTR	p.D94N	NM_001248006.1	NP_001234935.1	WXS	Illumina GAIIx	Phase_I	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	674	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	94					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.280G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604985	0.46423	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000528227;ENST00000529529	T;T;T;T;T;T	0.73897	-0.62;-0.62;-0.79;-0.62;0.98;1.7	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);	0.160258	0.56097	D	0.000035	T	0.53722	0.1814	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.15484	0.013	T	0.50775	-0.8788	10	0.19590	T	0.45	-11.6238	17.5983	0.88018	0.0:1.0:0.0:0.0	.	94	O75382	TRIM3_HUMAN	N	94	ENSP00000433102:D94N;ENSP00000340797:D94N;ENSP00000441091:D94N;ENSP00000352508:D94N;ENSP00000433070:D94N;ENSP00000437283:D94N	ENSP00000337094:D94N	D	-	1	0	TRIM3	6435954	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.398000	0.79919	2.507000	0.84556	0.561000	0.74099	GAT		0.647	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		53	112	0	0	0	1	0	53	112				
SUCO	51430	broad.mit.edu	37	1	172547460	172547460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr1:172547460G>T	ENST00000263688.3	+	14	1582	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	SUCO_ENST00000367723.4_Nonsense_Mutation_p.E606*|SUCO_ENST00000608151.1_Nonsense_Mutation_p.E607*|SUCO_ENST00000610051.1_Nonsense_Mutation_p.E418*	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	455					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TAGCATGGTGGAAGAATATGA	0.368																																						ENST00000367723.3																			0											c.(1819-1821)Gaa>Taa		SUN domain containing ossification factor							130.0	123.0	125.0					1																	172547460		2203	4300	6503	SO:0001587	stop_gained	51430							g.chr1:172547460G>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1363G>T	1.37:g.172547460G>T	ENSP00000263688:p.Glu455*		Somatic				SUCO_ENST00000263688.3_Nonsense_Mutation_p.E455*	p.E607*	NM_016227.2	NP_057311.2	WXS	Illumina GAIIx	Phase_I					13	1943	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Nonsense_Mutation	SNP	ENST00000263688.3	37	c.1819G>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	40	8.360119	0.98777	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2826	17.5298	0.87810	0.0:0.0:1.0:0.0	.	.	.	.	X	607;455	.	ENSP00000263688:E455X	E	+	1	0	C1orf9	170814083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.560000	0.86352	0.563000	0.77884	GAA		0.368	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		4	59	1	0	1	1	1	4	59				
STYK1	55359	broad.mit.edu	37	12	10783738	10783738	+	Silent	SNP	C	C	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr12:10783738C>T	ENST00000075503.3	-	5	877	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTGCAAATCTGCTCCAGAA	0.507										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(355-357)caG>caA		serine/threonine/tyrosine kinase 1							80.0	77.0	78.0					12																	10783738		2203	4300	6503	SO:0001819	synonymous_variant	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10783738C>T	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.357G>A	12.37:g.10783738C>T		HNSCC(73;0.22)	Somatic					p.Q119Q	NM_018423.2	NP_060893.2	WXS	Illumina GAIIx	Phase_I	Q6J9G0	STYK1_HUMAN			5	877	-			119			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	c.357G>A	CCDS8629.1																																																																																				0.507	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		9	131	0	0	0	1	0	9	131				
RBM43	375287	broad.mit.edu	37	2	152112099	152112099	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:152112099T>C	ENST00000331426.5	-	2	313	c.162A>G	c.(160-162)atA>atG	p.I54M		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGTCGGATATATCACATCTT	0.338																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(160-162)atA>atG		RNA binding motif protein 43							150.0	152.0	151.0					2																	152112099		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152112099T>C	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.162A>G	2.37:g.152112099T>C	ENSP00000331211:p.Ile54Met		Somatic					p.I54M	NM_198557.2	NP_940959.1	WXS	Illumina GAIIx	Phase_I	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	313	-			54			RRM.		B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.162A>G	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533822	0.45073	.	.	ENSG00000184898	ENST00000331426	T	0.46451	0.87	4.44	-2.49	0.06403	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.648102	0.14928	N	0.290224	T	0.24509	0.0594	L	0.29908	0.895	0.80722	D	1	B	0.33807	0.426	B	0.32090	0.14	T	0.04115	-1.0976	10	0.54805	T	0.06	-4.0271	6.2437	0.20805	0.0:0.3993:0.2685:0.3322	.	54	Q6ZSC3	RBM43_HUMAN	M	54	ENSP00000331211:I54M	ENSP00000331211:I54M	I	-	3	3	RBM43	151820345	0.056000	0.20664	0.992000	0.48379	0.704000	0.40688	-1.055000	0.03493	-0.301000	0.08882	0.260000	0.18958	ATA		0.338	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		59	132	0	0	0	1	0	59	132				
SIPA1L3	23094	broad.mit.edu	37	19	38573642	38573642	+	Silent	SNP	C	C	T	rs533477771	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr19:38573642C>T	ENST00000222345.6	+	3	1946	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	479					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGAAGTTCCCAAGGAGCAGC	0.672													C|||	5	0.000998403	0.0	0.0	5008	,	,		16777	0.0		0.0	False		,,,				2504	0.0051					ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1435-1437)ccC>ccT		signal-induced proliferation-associated 1 like 3							29.0	34.0	32.0					19																	38573642		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38573642C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1437C>T	19.37:g.38573642C>T			Somatic					p.P479P	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1946	+			479					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1437C>T	CCDS33007.1																																																																																				0.672	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		10	26	0	0	0	1	0	10	26				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly		Somatic				EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	WXS	Illumina GAIIx	Phase_I	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	70	0	0	0	1	0	4	70				
GRPEL1	80273	broad.mit.edu	37	4	7062876	7062876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr4:7062876G>A	ENST00000264954.4	-	4	531	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	123					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGAACACACTGTGTTGCCTTC	0.463																																						ENST00000264954.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(367-369)Cag>Tag		GrpE-like 1, mitochondrial (E. coli)							105.0	107.0	106.0					4																	7062876		2203	4300	6503	SO:0001587	stop_gained	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7062876G>A	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.367C>T	4.37:g.7062876G>A	ENSP00000264954:p.Gln123*		Somatic				GRPEL1_ENST00000514056.1_5'UTR	p.Q123*	NM_025196.2	NP_079472.1	WXS	Illumina GAIIx	Phase_I	Q9HAV7	GRPE1_HUMAN			4	531	-			123					B2R783|Q549M6	Nonsense_Mutation	SNP	ENST00000264954.4	37	c.367C>T	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668234	0.88348	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	3.88	0.44766	.	0.104529	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.5528	0.68078	0.0:0.575:0.425:0.0	.	.	.	.	X	123;102	.	ENSP00000264954:Q123X	Q	-	1	0	GRPEL1	7113777	1.000000	0.71417	0.113000	0.21522	0.780000	0.44128	5.043000	0.64208	1.373000	0.46208	0.561000	0.74099	CAG		0.463	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196		47	139	0	0	0	1	0	47	139				
COL11A2	1302	broad.mit.edu	37	6	33140387	33140387	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr6:33140387C>A	ENST00000374708.4	-	37	2818	c.2560G>T	c.(2560-2562)Ggg>Tgg	p.G854W	COL11A2_ENST00000395197.1_Missense_Mutation_p.G880W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G914W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G859W|COL11A2_ENST00000357486.1_Missense_Mutation_p.G919W|COL11A2_ENST00000341947.2_Missense_Mutation_p.G940W|COL11A2_ENST00000374713.1_Missense_Mutation_p.G893W|COL11A2_ENST00000361917.1_Missense_Mutation_p.G833W	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	940	Collagen-like 4.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTCTCTCCCCCATAGGGCCG	0.627																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(2818-2820)Ggg>Tgg		collagen, type XI, alpha 2							43.0	49.0	47.0					6																	33140387		1509	2709	4218	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33140387C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2560G>T	6.37:g.33140387C>A	ENSP00000363840:p.Gly854Trp		Somatic				COL11A2_ENST00000395197.1_Missense_Mutation_p.G880W|COL11A2_ENST00000374713.1_Missense_Mutation_p.G893W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G919W|COL11A2_ENST00000374712.1_Missense_Mutation_p.G859W|COL11A2_ENST00000361917.1_Missense_Mutation_p.G833W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G914W|COL11A2_ENST00000374708.4_Missense_Mutation_p.G854W	p.G940W	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			39	3045	-			940		Missing (in STL3).	Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2818G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373833	0.82573	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99369	-4.25;-4.25;-4.25;-4.25;-5.78;-4.25;-4.25;-4.25	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97186	0.9854	10	0.87932	D	0	.	15.893	0.79315	0.0:1.0:0.0:0.0	.	833;854;940	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	W	854;940;919;914;893;880;859;833	ENSP00000363840:G854W;ENSP00000339915:G940W;ENSP00000350079:G919W;ENSP00000363846:G914W;ENSP00000363845:G893W;ENSP00000378623:G880W;ENSP00000363844:G859W;ENSP00000355123:G833W	ENSP00000339915:G940W	G	-	1	0	COL11A2	33248365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.560000	0.82277	2.632000	0.89209	0.643000	0.83706	GGG		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			19	38	1	0	1.36565e-18	1	1.55824e-18	19	38				
ASCC3	10973	broad.mit.edu	37	6	101095127	101095127	+	Silent	SNP	C	C	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr6:101095127C>A	ENST00000369162.2	-	21	3797	c.3453G>T	c.(3451-3453)ctG>ctT	p.L1151L		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1151	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCATGTCTTTCAGCTTATCCA	0.368																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(3451-3453)ctG>ctT		activating signal cointegrator 1 complex subunit 3							115.0	118.0	117.0					6																	101095127		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101095127C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3453G>T	6.37:g.101095127C>A			Somatic					p.L1151L	NM_006828.2	NP_006819.2	WXS	Illumina GAIIx	Phase_I	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	21	3797	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1151			SEC63 1.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.3453G>T	CCDS5046.1																																																																																				0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		8	72	1	0	1.12685e-05	1	1.22305e-05	8	72				
ITPR2	3709	broad.mit.edu	37	12	26848561	26848561	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr12:26848561G>C	ENST00000381340.3	-	10	1390	c.974C>G	c.(973-975)gCc>gGc	p.A325G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	325	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTCATTTTGGGCATCTCGATA	0.303																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(973-975)gCc>gGc		inositol 1,4,5-trisphosphate receptor, type 2							61.0	59.0	60.0					12																	26848561		1823	4081	5904	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26848561G>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.974C>G	12.37:g.26848561G>C	ENSP00000370744:p.Ala325Gly		Somatic					p.A325G	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			10	1390	-	Colorectal(261;0.0847)		325			MIR 4.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.974C>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504587	0.26949	.	.	ENSG00000123104	ENST00000381340	D	0.90955	-2.76	3.97	3.06	0.35304	MIR motif (2);MIR (2);	0.365064	0.29335	N	0.012447	T	0.79759	0.4501	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68671	-0.5347	10	0.22706	T	0.39	.	2.9178	0.05759	0.1006:0.2267:0.506:0.1666	.	325	Q14571	ITPR2_HUMAN	G	325	ENSP00000370744:A325G	ENSP00000370744:A325G	A	-	2	0	ITPR2	26739828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.096000	0.30976	1.214000	0.43395	0.563000	0.77884	GCC		0.303	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	86	0	0	0	1	0	18	86				
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G	rs202132789		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)ccafs	p.P937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2809-2811)cacfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23417944_23417945insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2811dupC	1.37:g.23417950_23417950dupG	ENSP00000303758:p.Pro937fs		Somatic				LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs	p.H937fs			WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3611_3612	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.2810_2811insC	CCDS30628.1																																																																																				0.495	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		14	764						14	764	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	-	GGGACA	rs151149897|rs66614970|rs6667693		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:26608843_26608844insGGGACA	ENST00000374222.1	-	16	1973_1974	c.1509_1510insTGTCCC	c.(1507-1512)cccggt>cccTGTCCCggt	p.502_503insPC	UBXN11_ENST00000314675.7_In_Frame_Ins_p.382_383insPC|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPC|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPC|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPC|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPC			Q5T124	UBX11_HUMAN	UBX domain protein 11	502	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733																																						ENST00000314675.7																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)	upper_aerodigestive_tract(1)|ovary(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1147-1152)ccgtcc>ccTGTCCCgtcc		UBX domain protein 11																																				SO:0001652	inframe_insertion	91544					cytoplasm|cytoskeleton		g.chr1:26608843_26608844insGGGACA	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1509_1510insTGTCCC	1.37:g.26608843_26608844insGGGACA	ENSP00000363339:p.Ser502_Pro503insProCys		Somatic				UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV	p.382_383insPV	NM_001077262.1	NP_001070730.1	WXS	Illumina GAIIx	Phase_I	Q5T124	UBX11_HUMAN			11	1228_1229	-			502					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Ins	INS	ENST00000374222.1	37	c.1149_1150insTGTCCC	CCDS41288.1																																																																																				0.733	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		9	15						9	15	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs|KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs		Somatic				KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs	p.RP114fs	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			7	265						7	265	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36643780	36643781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:36643780_36643781insC	ENST00000373151.2	+	9	1902_1903	c.1686_1687insC	c.(1687-1689)cccfs	p.P563fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P531fs|MAP7D1_ENST00000373148.4_Frame_Shift_Ins_p.P109fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.P526fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	563	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGAAGGAGCAGCCCCCCGCGGA	0.698																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1573-1578)caccccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36643780_36643781insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1692dupC	1.37:g.36643786_36643786dupC	ENSP00000362244:p.Pro563fs		Somatic				MAP7D1_ENST00000373148.4_Frame_Shift_Ins_p.HP108fs|MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.HP530fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.HP562fs	p.HP525fs			WXS	Illumina GAIIx	Phase_I	Q3KQU3	MA7D1_HUMAN			8	2028_2029	+		Myeloproliferative disorder(586;0.0393)	562			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.1575_1576insC	CCDS30673.1																																																																																				0.698	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		2	4						2	4	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs		Somatic				CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs	p.R469fs	NM_156039.3	NP_724781.1	WXS	Illumina GAIIx	Phase_I	Q99062	CSF3R_HUMAN			11	1951_1952	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	469			Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		10	381						10	381	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42049248	42049249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:42049248_42049249insG	ENST00000372583.1	-	4	2105_2106	c.1220_1221insC	c.(1219-1221)ccafs	p.P407fs	HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.P407fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.P407fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.P407fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	407	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGTTGGTGTTTGGGGGGCTGAC	0.594																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1219-1221)caafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049248_42049249insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1221dupC	1.37:g.42049254_42049254dupG	ENSP00000361664:p.Pro407fs		Somatic				HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.Q407fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.Q407fs	p.Q407fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	2234_2235	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	407			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.1220_1221insC	CCDS463.1																																																																																				0.594	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		10	309						10	309	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392|rs371531691		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:42050006_42050007insG	ENST00000372583.1	-	4	1347_1348	c.462_463insC	c.(460-465)cccgagfs	p.E155fs	HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.E155fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(460-465)ccaggafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050006_42050007insG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.463dupC	1.37:g.42050012_42050012dupG	ENSP00000361664:p.Glu155fs		Somatic				HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs	p.G155fs	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1476_1477	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	155					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.462_463insC	CCDS463.1																																																																																				0.604	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		9	529						9	529	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs		Somatic				ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	p.K304fs	NM_032257.4	NP_115633.3	WXS	Illumina GAIIx	Phase_I	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		9	490						9	490	---	---	---	---
SLC2A1	6513	broad.mit.edu	37	1	43395453	43395454	+	Splice_Site	INS	-	-	G	rs113697235|rs112081052		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:43395453_43395454insG	ENST00000426263.3	-	6	858		c.e6-2		SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TCTTTAGCACTGGGGGGACCGG	0.629																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.e6-2		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)																																			SO:0001630	splice_region_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395453_43395454insG	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.680-2->C	1.37:g.43395459_43395459dupG			Somatic				SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron		NM_006516.2	NP_006507.2	WXS	Illumina GAIIx	Phase_I	P11166	GTR1_HUMAN			6	858	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)						A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Splice_Site	INS	ENST00000426263.3	37		CCDS477.1																																																																																				0.629	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516	Intron	9	670						9	670	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs		Somatic				RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs	p.S88fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		11	906						11	906	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000474476.1_3'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs		Somatic				FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron	p.VG137fs	NM_001113411.1	NP_001106882.1	WXS	Illumina GAIIx	Phase_I	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		22	264						22	264	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs		Somatic					p.L430fs	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		10	308						10	308	---	---	---	---
RPE65	6121	broad.mit.edu	37	1	68897205	68897206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:68897205_68897206insA	ENST00000262340.5	-	11	1244_1245	c.1191_1192insT	c.(1189-1194)agtgacfs	p.D398fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	398					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATAGTCTCGTCACTGCACAGAA	0.47																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(1189-1194)agacgafs		retinal pigment epithelium-specific protein 65kDa																																				SO:0001589	frameshift_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68897205_68897206insA	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1192dupT	1.37:g.68897206_68897206dupA	ENSP00000262340:p.Asp398fs		Somatic					p.RR397fs	NM_000329.2	NP_000320.1	WXS	Illumina GAIIx	Phase_I	Q16518	RPE65_HUMAN			11	1244_1245	-			397					A8K1L0|Q5T9U3	Frame_Shift_Ins	INS	ENST00000262340.5	37	c.1191_1192insT	CCDS643.1																																																																																				0.470	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		44	119						44	119	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs		Somatic					p.Q432fs	NM_207398.2	NP_997281.2	WXS	Illumina GAIIx	Phase_I	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		10	254						10	254	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1521)ctccccfs	p.LP506fs	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.5																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1516-1518)cccfs		leucine rich repeat containing 8 family, member C																																				SO:0001589	frameshift_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179646_90179647insC		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1524dupC	1.37:g.90179653_90179653dupC	ENSP00000359483:p.Leu506fs		Somatic				RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.P506fs	NM_032270.4	NP_115646.2	WXS	Illumina GAIIx	Phase_I	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1772_1773	+		all_lung(203;0.126)	506					B3KXS9|Q29RV6|Q9H075	Frame_Shift_Ins	INS	ENST00000370454.4	37	c.1517_1518insC	CCDS725.1																																																																																				0.500	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		10	195						10	195	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs		Somatic					p.G170fs	NM_173567.4	NP_775838.3	WXS	Illumina GAIIx	Phase_I	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		14	399						14	399	---	---	---	---
FAM212B	55924	broad.mit.edu	37	1	112269658	112269659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:112269658_112269659insG	ENST00000357260.5	-	2	1006_1007	c.825_826insC	c.(823-828)cccacafs	p.T276fs	FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T261fs|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	276										cervix(1)|endometrium(1)	2						GGGCAGCTTGTGGGGGGATTCT	0.574																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(823-828)cccaagfs		family with sequence similarity 212, member B																																				SO:0001589	frameshift_variant	55924							g.chr1:112269658_112269659insG	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.826dupC	1.37:g.112269664_112269664dupG	ENSP00000349805:p.Thr276fs		Somatic				FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs|FAM212B_ENST00000534365.1_Intron	p.K276fs	NM_019099.4	NP_061972.1	WXS	Illumina GAIIx	Phase_I	Q9NTI7	CA183_HUMAN			2	1006_1007	-			276					B3KP38|B4DF94|Q9NTI6	Frame_Shift_Ins	INS	ENST00000357260.5	37	c.825_826insC	CCDS841.1																																																																																				0.574	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		8	1340						8	1340	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs		Somatic				OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs	p.T243fs			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		12	237						12	237	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)cacfs	p.H1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTGGTTGGTGGGGGGACTCT	0.371																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3025-3027)ccafs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584454_118584455insG		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3026dupC	1.37:g.118584460_118584460dupG	ENSP00000337804:p.His1009fs		Somatic					p.P1009fs	NM_206996.2	NP_996879.1	WXS	Illumina GAIIx	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	3090_3091	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1009					Q8NAZ1|Q9NT21	Frame_Shift_Ins	INS	ENST00000336338.5	37	c.3025_3026insC	CCDS899.1																																																																																				0.371	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		8	880						8	880	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		11	170						11	170	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147094075	147094076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:147094075_147094076insC	ENST00000234739.3	+	9	3646_3647	c.2906_2907insC	c.(2905-2910)ggccccfs	p.GP969fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	969	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTTTTAGGTGGCCCCCCACCTC	0.495			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2905-2907)gccfs		B-cell CLL/lymphoma 9																																				SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147094075_147094076insC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2912dupC	1.37:g.147094081_147094081dupC	ENSP00000234739:p.Gly969fs		Somatic					p.A969fs	NM_004326.2	NP_004317.2	WXS	Illumina GAIIx	Phase_I	O00512	BCL9_HUMAN			9	3646_3647	+	all_hematologic(923;0.115)		969			Pro-rich.		Q5T489	Frame_Shift_Ins	INS	ENST00000234739.3	37	c.2906_2907insC	CCDS30833.1																																																																																				0.495	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	338						7	338	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1810-1812)gggfs	p.G604fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.G474fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.G522fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	604					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569																																						ENST00000369064.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.C603C(2)|p.G604W(1)	urinary_tract(1)|lung(1)|endometrium(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1807-1812)tgggggfs		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)																																			SO:0001589	frameshift_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477198_150477199insG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1815dupG	1.37:g.150477204_150477204dupG	ENSP00000358060:p.Gly604fs		Somatic				TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs	p.WG603fs	NM_025150.3	NP_079426.2	WXS	Illumina GAIIx	Phase_I	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	1843_1844	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		603					Q53GW7|Q96I50|Q9H9V2	Frame_Shift_Ins	INS	ENST00000369064.3	37	c.1809_1810insG	CCDS952.1																																																																																				0.569	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		8	649						8	649	---	---	---	---
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(136-138)cccfs	p.P46fs	ECM1_ENST00000369049.4_Frame_Shift_Ins_p.P46fs|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.P46fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	46					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTACGCAGCTCCCCCCTCCCC	0.584																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(133-138)gcccccfs		extracellular matrix protein 1																																				SO:0001589	frameshift_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150482150_150482151insC	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.141dupC	1.37:g.150482156_150482156dupC	ENSP00000358043:p.Pro46fs		Somatic				ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs	p.AP45fs	NM_004425.3	NP_004416.2	WXS	Illumina GAIIx	Phase_I	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		3	260_261	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		45					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Frame_Shift_Ins	INS	ENST00000369047.4	37	c.135_136insC	CCDS953.1																																																																																				0.584	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		11	797						11	797	---	---	---	---
ARNT	405	broad.mit.edu	37	1	150784508	150784509	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:150784508_150784509insG	ENST00000358595.5	-	22	2558_2559	c.2358_2359insC	c.(2356-2361)ccctttfs	p.F787fs	ARNT_ENST00000515192.1_Frame_Shift_Ins_p.F773fs|ARNT_ENST00000354396.2_Frame_Shift_Ins_p.F785fs|ARNT_ENST00000505755.1_Frame_Shift_Ins_p.F772fs|RNU6-1309P_ENST00000363305.1_RNA	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	787					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATTCTGAAAAGGGGGGAAACA	0.376			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(2356-2361)cctttcfs		aryl hydrocarbon receptor nuclear translocator																																				SO:0001589	frameshift_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150784508_150784509insG	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.2359dupC	1.37:g.150784514_150784514dupG	ENSP00000351407:p.Phe787fs		Somatic				ARNT_ENST00000505755.1_Frame_Shift_Ins_p.PF771fs|ARNT_ENST00000354396.2_Frame_Shift_Ins_p.PF784fs|ARNT_ENST00000515192.1_Frame_Shift_Ins_p.PF772fs	p.PF786fs	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	WXS	Illumina GAIIx	Phase_I	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	2558_2559	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		786					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Frame_Shift_Ins	INS	ENST00000358595.5	37	c.2358_2359insC	CCDS970.1																																																																																				0.376	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			7	299						7	299	---	---	---	---
LCE1B	353132	broad.mit.edu	37	1	152785008	152785009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:152785008_152785009insC	ENST00000360090.3	+	1	562_563	c.86_87insC	c.(85-90)tgccccfs	p.CP29fs		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	29	Pro-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCTAGATGCCCCCCAAAGT	0.629																																						ENST00000360090.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18						c.(85-87)tccfs		late cornified envelope 1B																																				SO:0001589	frameshift_variant	353132				keratinization			g.chr1:152785008_152785009insC	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.92dupC	1.37:g.152785014_152785014dupC	ENSP00000353203:p.Cys29fs		Somatic					p.S29fs	NM_178349.1	NP_848126.1	WXS	Illumina GAIIx	Phase_I	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	562_563	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Pro-rich.		A4IF40	Frame_Shift_Ins	INS	ENST00000360090.3	37	c.86_87insC	CCDS1027.1																																																																																				0.629	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		7	205						7	205	---	---	---	---
CRTC2	200186	broad.mit.edu	37	1	153924672	153924673	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:153924672_153924673insC	ENST00000368633.1	-	10	945_946	c.818_819insG	c.(817-819)ggcfs	p.G273fs	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	273					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGTAGGGAGCCCCCCGTGTT	0.574																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(817-819)gtcfs		CREB regulated transcription coactivator 2																																				SO:0001589	frameshift_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924672_153924673insC	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.819dupG	1.37:g.153924678_153924678dupC	ENSP00000357622:p.Gly273fs		Somatic				CRTC2_ENST00000368630.3_Intron	p.V273fs	NM_181715.2	NP_859066.1	WXS	Illumina GAIIx	Phase_I	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	945_946	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		273					Q6UUV8|Q7Z3X7|Q8N332	Frame_Shift_Ins	INS	ENST00000368633.1	37	c.818_819insG	CCDS30875.1																																																																																				0.574	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		8	357						8	357	---	---	---	---
UBE2Q1	55585	broad.mit.edu	37	1	154523415	154523416	+	Splice_Site	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:154523415_154523416insT	ENST00000292211.4	-	12	1314_1315	c.1235_1236insA	c.(1234-1236)aac>aaAc	p.N412fs	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	412					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.N412fs*>12(1)|p.G413fs*>11(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCCTCACCGTTTTTTTCGTG	0.52																																						ENST00000292211.4																			2	Insertion - Frameshift(2)	p.N412fs*>12(1)|p.G413fs*>11(1)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.e12+1		ubiquitin-conjugating enzyme E2Q family member 1																																				SO:0001630	splice_region_variant	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154523415_154523416insT	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1237+1->A	1.37:g.154523422_154523422dupT			Somatic					p.R412_splice	NM_017582.6	NP_060052.3	WXS	Illumina GAIIx	Phase_I	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1314_1315	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		412					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Splice_Site	INS	ENST00000292211.4	37	c.1237_splice	CCDS1069.1																																																																																				0.520	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582	Frame_Shift_Ins	11	979						11	979	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(124-126)aacfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491185_155491186insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.126dupA	1.37:g.155491192_155491192dupT	ENSP00000357330:p.Asn42fs		Somatic				ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs	p.N42fs			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	764_765	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		42					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.125_126insA																																																																																					0.431	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		10	1609						10	1609	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs		Somatic				MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	WXS	Illumina GAIIx	Phase_I	Q96A35	RM24_HUMAN			2	190_191	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		7	184						7	184	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C	rs535534188		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-558)tgccccfs	p.CP185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.45																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(553-555)tccfs		CD1c molecule																																				SO:0001589	frameshift_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262099_158262100insC	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.559dupC	1.37:g.158262104_158262104dupC	ENSP00000357152:p.Cys185fs		Somatic					p.S185fs	NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	P29017	CD1C_HUMAN			3	833_834	+	all_hematologic(112;0.0378)		185					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Frame_Shift_Ins	INS	ENST00000368170.3	37	c.554_555insC	CCDS1175.1																																																																																				0.450	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		9	2187						9	2187	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		8	387						8	387	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5052)atccccfs	p.IP1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.47																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)accfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762723_176762724insC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5055dupC	1.37:g.176762730_176762730dupC	ENSP00000356634:p.Ile1683fs		Somatic					p.T1683fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			20	6212_6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.5048_5049insC	CCDS41438.1																																																																																				0.470	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			25	598						25	598	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					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)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			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.(253-255)accfs		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.chr1:203667345_203667346insC	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	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs		Somatic				ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		11	255						11	255	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs		Somatic				CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		12	456						12	456	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-411)agccccfs	p.SP136fs	PROX1_ENST00000435016.1_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.SP136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.53																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(406-408)accfs		prospero homeobox 1																																				SO:0001589	frameshift_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170285_214170286insC	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.413dupC	1.37:g.214170291_214170291dupC	ENSP00000355925:p.Ser136fs		Somatic				PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs	p.T136fs	NM_001270616.1	NP_001257545.1	WXS	Illumina GAIIx	Phase_I	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1015_1016	+			136					A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Ins	INS	ENST00000366958.4	37	c.407_408insC	CCDS31021.1																																																																																				0.530	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		12	358						12	358	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs		Somatic				ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		7	252						7	252	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229600610	229600620	+	Frame_Shift_Del	DEL	GGACCACTTGT	GGACCACTTGT	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:229600610_229600620delGGACCACTTGT	ENST00000261396.3	-	18	2393_2403	c.2302_2312delACAAGTGGTCC	c.(2302-2313)acaagtggtcctfs	p.TSGP768fs	NUP133_ENST00000537506.1_Frame_Shift_Del_p.TSGP752fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	768					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GATGCCACCAGGACCACTTGTTGCTGTGAAA	0.436																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(2302-2313)tfs		nucleoporin 133kDa																																				SO:0001589	frameshift_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229600610_229600620delGGACCACTTGT		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2302_2312delACAAGTGGTCC	1.37:g.229600610_229600620delGGACCACTTGT	ENSP00000261396:p.Thr768fs		Somatic				NUP133_ENST00000366679.1_Frame_Shift_Del_p.TSGP768fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.TSGP752fs	p.TSGP768fs	NM_018230.2	NP_060700.2	WXS	Illumina GAIIx	Phase_I	Q8WUM0	NU133_HUMAN			18	2393_2403	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	768					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Frame_Shift_Del	DEL	ENST00000261396.3	37	c.2302_2312delACAAGTGGTCC	CCDS1579.1																																																																																				0.436	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		13	191						13	191	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)caafs	p.Q150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.49																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(448-450)aagfs		signal-induced proliferation-associated 1 like 2																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650637_232650638insG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.449dupC	1.37:g.232650643_232650643dupG	ENSP00000355589:p.Gln150fs		Somatic				SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs	p.K150fs			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	806_807	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	150					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Ins	INS	ENST00000366630.1	37	c.448_449insC	CCDS41474.1																																																																																				0.490	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		12	649						12	649	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs		Somatic					p.P442fs	NM_032208.2	NP_115584.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		8	517						8	517	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73302654	73302655	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:73302654_73302655insG	ENST00000258098.6	-	5	2196_2197	c.1956_1957insC	c.(1954-1959)cccaaafs	p.K653fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	653					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						GAAGGCTATTTGGGGGGGCCCG	0.629																																						ENST00000258098.6																			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.(1954-1959)ccaatafs		RAB11 family interacting protein 5 (class I)																																				SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73302654_73302655insG	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.1957dupC	2.37:g.73302661_73302661dupG	ENSP00000258098:p.Lys653fs		Somatic				RAB11FIP5_ENST00000493523.2_5'UTR	p.I653fs	NM_015470.2	NP_056285.1	WXS	Illumina GAIIx	Phase_I	Q9BXF6	RFIP5_HUMAN			5	2196_2197	-			653					O94939|Q9P0M1	Frame_Shift_Ins	INS	ENST00000258098.6	37	c.1956_1957insC	CCDS1923.1																																																																																				0.629	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		20	264						20	264	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs		Somatic				DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000495643.1_5'UTR	p.Q919fs	NM_004082.4	NP_004073.2	WXS	Illumina GAIIx	Phase_I	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		7	752						7	752	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(961-963)gggfs	p.G321fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G293fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	321	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(958-963)ttggggfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75104377_75104378insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.966dupG	2.37:g.75104383_75104383dupG	ENSP00000290573:p.Gly321fs		Somatic				HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	p.LG320fs	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			8	1560_1561	+			320			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.960_961insG	CCDS1956.1																																																																																				0.545	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		8	662						8	662	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(721-723)cccfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs		Somatic				IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs	p.P241fs	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			6	950_951	+			241			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		9	657						9	657	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs		Somatic				XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	p.TG685fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	299						12	299	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs		Somatic				MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs	p.NP417fs			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	270						8	270	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178936666	178936667	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:178936666_178936667insG	ENST00000286063.6	-	1	815_816	c.498_499insC	c.(496-501)cccaccfs	p.T167fs	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	167					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TGGGCTGTGGTGGGGGGCAGGG	0.564									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(496-501)ccccacfs		phosphodiesterase 11A			,	0,4266		0,0,2133					,	4.9	1.0			67	1,8253		0,1,4126	no	frameshift,intron	PDE11A	NM_016953.3,NM_001077197.1	,	0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12519				SO:0001589	frameshift_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936666_178936667insG	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.499dupC	2.37:g.178936672_178936672dupG	ENSP00000286063:p.Thr167fs		Somatic				PDE11A_ENST00000358450.4_Intron	p.H167fs	NM_016953.3	NP_058649.3	WXS	Illumina GAIIx	Phase_I	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	815_816	-			167					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Frame_Shift_Ins	INS	ENST00000286063.6	37	c.498_499insC	CCDS33334.1																																																																																				0.564	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			10	306						10	306	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs		Somatic				NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	WXS	Illumina GAIIx	Phase_I	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		12	359						12	359	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs		Somatic				ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA	p.G559fs	NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		22	558						22	558	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:203621968_203621969insC	ENST00000392238.2	+	6	1137_1138	c.1137_1138insC	c.(1138-1140)cccfs	p.P380fs	FAM117B_ENST00000303116.6_Frame_Shift_Ins_p.P136fs			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	380										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(403-408)ccccccfs		family with sequence similarity 117, member B																																				SO:0001589	frameshift_variant	150864							g.chr2:203621968_203621969insC	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1144dupC	2.37:g.203621975_203621975dupC	ENSP00000376071:p.Pro380fs		Somatic				FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	p.PP135fs	NM_173511.3	NP_775782.2	WXS	Illumina GAIIx	Phase_I	Q6P1L5	F117B_HUMAN			6	1147_1148	+			379					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Frame_Shift_Ins	INS	ENST00000392238.2	37	c.405_406insC	CCDS33362.2																																																																																				0.485	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		12	146						12	146	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			2	Insertion - Frameshift(2)	p.K781fs*3(2)	ovary(2)	NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(2332-2334)cccfs		ADAM metallopeptidase domain 23																																				SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460860_207460861insC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs		Somatic				ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	p.P778fs	NM_003812.2	NP_003803.1	WXS	Illumina GAIIx	Phase_I	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2661_2662	+			778					A2RU59	Frame_Shift_Ins	INS	ENST00000264377.3	37	c.2333_2334insC	CCDS2369.1																																																																																				0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		10	128						10	128	---	---	---	---
UGT1A4	54657	broad.mit.edu	37	2	234627976	234627977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:234627976_234627977insT	ENST00000373409.3	+	1	553_554	c.510_511insT	c.(511-513)tttfs	p.F171fs	UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	171					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TTCCTGCTGTGTTTTTTTGGAG	0.455																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(508-513)gtttttfs																																						SO:0001589	frameshift_variant	54657							g.chr2:234627976_234627977insT	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.517dupT	2.37:g.234627983_234627983dupT	ENSP00000362508:p.Phe171fs		Somatic				UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron	p.VF170fs	NM_007120.2	NP_009051.1	WXS	Illumina GAIIx	Phase_I				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	553_554	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Frame_Shift_Ins	INS	ENST00000373409.3	37	c.510_511insT	CCDS33405.1																																																																																				0.455	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		9	624						9	624	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs		Somatic				NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	p.P202fs	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		15	383						15	383	---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242195692	242195693	+	Frame_Shift_Ins	INS	-	-	G	rs201285919		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr2:242195692_242195693insG	ENST00000391975.1	-	7	1006_1007	c.779_780insC	c.(778-780)ccafs	p.P260fs	HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.P296fs|HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.P260fs|HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.P260fs	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	260	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCACGCTGGGTGGGGGGATGTT	0.53																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(778-780)cccfs		high density lipoprotein binding protein																																				SO:0001589	frameshift_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242195692_242195693insG		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.780dupC	2.37:g.242195698_242195698dupG	ENSP00000375836:p.Pro260fs		Somatic				HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.P260fs|HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.P296fs|HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.P260fs	p.P260fs	NM_203346.3	NP_976221.1	WXS	Illumina GAIIx	Phase_I	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	7	1006_1007	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	260			KH 2.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Frame_Shift_Ins	INS	ENST00000391975.1	37	c.779_780insC	CCDS2547.1																																																																																				0.530	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		8	226						8	226	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52702569	52702569	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:52702569delT	ENST00000296302.7	-	3	330	c.329delA	c.(328-330)aatfs	p.N110fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N110fs			Q86U86	PB1_HUMAN	polybromo 1	110	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N110fs*3(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTCAGCAAATTAACATCATC	0.328			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Deletion - Frameshift(3)	p.N110fs*3(3)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(328-330)atfs		polybromo 1							93.0	85.0	88.0					3																	52702569		2203	4297	6500	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52702569delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.329delA	3.37:g.52702569delT	ENSP00000296302:p.Asn110fs		Somatic				PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N110fs	p.N110fs			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	3	331	-			110			Bromo 1.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.329delA																																																																																					0.328	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		21	38						21	38	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138413709	138413710	+	Frame_Shift_Ins	INS	-	-	G	rs199713806		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:138413709_138413710insG	ENST00000477593.1	-	13	1883_1884	c.1810_1811insC	c.(1810-1812)cggfs	p.R604fs	PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.R50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.R604fs			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TAGGGCCTCCCGGGGGGGCAGT	0.465																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1810-1812)ggafs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta																																				SO:0001589	frameshift_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138413709_138413710insG		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1811dupC	3.37:g.138413716_138413716dupG	ENSP00000418143:p.Arg604fs		Somatic				PIK3CB_ENST00000544716.1_Frame_Shift_Ins_p.G50fs|PIK3CB_ENST00000289153.2_Frame_Shift_Ins_p.G604fs	p.G604fs			WXS	Illumina GAIIx	Phase_I	P42338	PK3CB_HUMAN			13	1883_1884	-			604			PI3K helical.		D3DNF0|Q24JU2	Frame_Shift_Ins	INS	ENST00000477593.1	37	c.1810_1811insC	CCDS3104.1																																																																																				0.465	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			8	146						8	146	---	---	---	---
COPB2	9276	broad.mit.edu	37	3	139090606	139090606	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:139090606delA	ENST00000333188.5	-	10	1345	c.1164delT	c.(1162-1164)tttfs	p.F388fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.F359fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	388					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GAGCAGATCCAAAGCTCTTGT	0.468																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1162-1164)ttfs		coatomer protein complex, subunit beta 2 (beta prime)							183.0	160.0	168.0					3																	139090606		2203	4300	6503	SO:0001589	frameshift_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139090606delA	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1164delT	3.37:g.139090606delA	ENSP00000329419:p.Phe388fs		Somatic				COPB2_ENST00000507777.1_Frame_Shift_Del_p.F359fs	p.F388fs	NM_004766.2	NP_004757.1	WXS	Illumina GAIIx	Phase_I	P35606	COPB2_HUMAN			10	1345	-			388					B4DZI8	Frame_Shift_Del	DEL	ENST00000333188.5	37	c.1164delT	CCDS3108.1																																																																																				0.468	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		116	263						116	263	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)accfs	p.T305fs	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.T320fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.T305fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.T290fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.T331fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CACCAGTGGCACCCCCCTCATC	0.54																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic																																				SO:0001589	frameshift_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823745_183823746insC	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.919dupC	3.37:g.183823751_183823751dupC	ENSP00000401444:p.Thr305fs		Somatic				HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs	p.P305fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	WXS	Illumina GAIIx	Phase_I	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1379_1380	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		305					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Frame_Shift_Ins	INS	ENST00000415389.2	37	c.913_914insC	CCDS58868.1																																																																																				0.540	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		9	580						9	580	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186370136	186370137	+	Frame_Shift_Ins	INS	-	-	C	rs540157028		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:186370136_186370137insC	ENST00000265029.3	+	7	966_967	c.865_866insC	c.(865-867)accfs	p.T289fs	FETUB_ENST00000450521.1_Frame_Shift_Ins_p.T289fs|FETUB_ENST00000539949.1_Frame_Shift_Ins_p.T141fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.T224fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.T252fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	289					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGAAAAACACCCCCCCAACA	0.495																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(865-867)cccfs		fetuin B																																				SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370136_186370137insC	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.872dupC	3.37:g.186370143_186370143dupC	ENSP00000265029:p.Thr289fs		Somatic				FETUB_ENST00000539949.1_Frame_Shift_Ins_p.P141fs|FETUB_ENST00000382134.3_Frame_Shift_Ins_p.P224fs|FETUB_ENST00000382136.3_Frame_Shift_Ins_p.P252fs|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Ins_p.P289fs	p.P289fs	NM_014375.2	NP_055190.2	WXS	Illumina GAIIx	Phase_I	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	7	966_967	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		289					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Ins	INS	ENST00000265029.3	37	c.865_866insC	CCDS3279.1																																																																																				0.495	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		16	308						16	308	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)cccaaafs	p.K273fs	UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.K125fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.K111fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	273						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCACATTTTTTGGGGGGACTGC	0.396																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(814-819)ccaaaafs		UBX domain protein 7																																				SO:0001589	frameshift_variant	26043						protein binding	g.chr3:196094916_196094917insG	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.817dupC	3.37:g.196094922_196094922dupG	ENSP00000296328:p.Lys273fs		Somatic				UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs	p.PK272fs	NM_015562.1	NP_056377.1	WXS	Illumina GAIIx	Phase_I	O94888	UBXN7_HUMAN			8	890_891	-			272					D3DXB3|Q6ZP77|Q86X20|Q8N327	Frame_Shift_Ins	INS	ENST00000296328.4	37	c.816_817insC	CCDS43191.1																																																																																				0.396	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		7	406						7	406	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197427914	197427915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr3:197427914_197427915insG	ENST00000296343.5	-	7	829_830	c.830_831insC	c.(829-831)ccafs	p.P277fs	KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.P277fs|KIAA0226_ENST00000273582.5_Frame_Shift_Ins_p.P217fs|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.P277fs	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	277	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AGACTGAAACTGGGGGGGCTTG	0.554																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(649-651)cgtfs		KIAA0226																																				SO:0001589	frameshift_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427914_197427915insG	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.831dupC	3.37:g.197427921_197427921dupG	ENSP00000296343:p.Pro277fs		Somatic				KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs	p.R217fs	NM_001145642.2	NP_001139114.1	WXS	Illumina GAIIx	Phase_I	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1195_1196	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		277			Ser-rich.		Q96CK5	Frame_Shift_Ins	INS	ENST00000296343.5	37	c.650_651insC	CCDS43195.1																																																																																				0.554	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		8	158						8	158	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs		Somatic				FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs	p.A228fs	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		8	647						8	647	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5785361	5785362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:5785361_5785362insC	ENST00000264956.6	+	12	1830_1831	c.1646_1647insC	c.(1645-1650)ctccccfs	p.LP549fs	EVC_ENST00000382674.2_Frame_Shift_Ins_p.LP549fs	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	549					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGACTGGCCTCCCCCCGGAAG	0.584																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1645-1647)cccfs		Ellis van Creveld syndrome																																				SO:0001589	frameshift_variant	2121				muscle organ development	integral to membrane		g.chr4:5785361_5785362insC	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1652dupC	4.37:g.5785367_5785367dupC	ENSP00000264956:p.Leu549fs		Somatic				EVC_ENST00000264956.6_Frame_Shift_Ins_p.P549fs	p.P549fs			WXS	Illumina GAIIx	Phase_I	P57679	EVC_HUMAN			12	1830_1831	+		Myeloproliferative disorder(84;0.117)	549						Frame_Shift_Ins	INS	ENST00000264956.6	37	c.1646_1647insC	CCDS3383.1																																																																																				0.584	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			12	589						12	589	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73956600	73956601	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:73956600_73956601insG	ENST00000358602.4	-	29	6860_6861	c.6744_6745insC	c.(6742-6747)cccttafs	p.PL2248fs	ANKRD17_ENST00000509867.2_Frame_Shift_Ins_p.PL2135fs|ANKRD17_ENST00000330838.6_Frame_Shift_Ins_p.PL1997fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2248					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)			CCAAATGGTAAGGGGGCACTGA	0.46																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(6742-6747)cctaccfs		ankyrin repeat domain 17																																				SO:0001589	frameshift_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73956600_73956601insG	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.6745dupC	4.37:g.73956605_73956605dupG	ENSP00000351416:p.Pro2248fs		Somatic				ANKRD17_ENST00000330838.6_Frame_Shift_Ins_p.T1998fs|ANKRD17_ENST00000509867.2_Frame_Shift_Ins_p.T2136fs	p.T2249fs	NM_032217.3	NP_115593.3	WXS	Illumina GAIIx	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)		29	6860_6861	-	Breast(15;0.000295)		2249					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Ins	INS	ENST00000358602.4	37	c.6744_6745insC	CCDS34004.1																																																																																				0.460	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		7	935						7	935	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)cagfs	p.Q860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				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)		GCCTCTCGTCTGGGGGGCATCC	0.599																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2578-2580)gacfs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091356_96091357insG	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.2579dupC	4.37:g.96091362_96091362dupG	ENSP00000406022:p.Gln860fs		Somatic					p.D860fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2926_2927	-		Hepatocellular(203;0.114)	860			Death.		Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.2578_2579insC	CCDS3643.1																																																																																				0.599	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		7	534						7	534	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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 production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs		Somatic					p.G11fs	NM_003265.2	NP_003256.1	WXS	Illumina GAIIx	Phase_I	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			12	280						12	280	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)cccaaafs	p.K1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(3670-3675)ccaatcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187558038_187558039insG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3673dupC	4.37:g.187558044_187558044dupG	ENSP00000406229:p.Lys1225fs	HNSCC(5;0.00058)	Somatic					p.I1225fs	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			5	3881_3882	-			1225			Cadherin 10.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.3672_3673insC	CCDS47177.1																																																																																				0.361	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	986						11	986	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs		Somatic				TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	WXS	Illumina GAIIx	Phase_I	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		8	663						8	663	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs		Somatic					p.*294fs	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		13	211						13	211	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggcgtfs	p.R312fs	PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.R265fs|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCCCTGACGCCCCCCGTTTC	0.53																																						ENST00000311106.3																			1	Substitution - Missense(1)	p.R312C(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(931-936)gggtcafs		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746639_95746640insC		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.934dupG	5.37:g.95746645_95746645dupC	ENSP00000308024:p.Arg312fs		Somatic				PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA	p.S312fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1170_1171	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	312			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Frame_Shift_Ins	INS	ENST00000311106.3	37	c.933_934insG	CCDS4081.1																																																																																				0.530	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		7	380						7	380	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		12	255						12	255	---	---	---	---
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G	rs570026912|rs371126144		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:135207263_135207264insG	ENST00000420621.1	+	5	707_708	c.535_536insG	c.(535-537)cggfs	p.R179fs	SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.R125fs|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000274513.5_Frame_Shift_Ins_p.R179fs			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(535-537)gggfs		solute carrier family 25, member 48																																				SO:0001589	frameshift_variant	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135207263_135207264insG		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.541dupG	5.37:g.135207269_135207269dupG	ENSP00000407973:p.Arg179fs		Somatic				SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs	p.G179fs			WXS	Illumina GAIIx	Phase_I	Q6ZT89	S2548_HUMAN			5	707_708	+			179					Q8TAV9	Frame_Shift_Ins	INS	ENST00000420621.1	37	c.535_536insG																																																																																					0.604	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		7	448						7	448	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(766-768)gggfs	p.G256fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(763-768)ccggggfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193287_139193288insG	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.772dupG	5.37:g.139193294_139193294dupG	ENSP00000274710:p.Gly256fs		Somatic					p.PG255fs	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	970_971	+			255					D3DQD3|Q8N3J8	Frame_Shift_Ins	INS	ENST00000274710.3	37	c.765_766insG	CCDS4216.1																																																																																				0.614	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		8	216						8	216	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		10	748						10	748	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs		Somatic					p.V224fs	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		9	339						9	339	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs		Somatic				PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs	p.E397fs			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	719						7	719	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153789314	153789315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:153789314_153789315insG	ENST00000297107.6	+	9	1515_1516	c.1378_1379insG	c.(1378-1380)tggfs	p.W460fs	GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.W133fs|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.W398fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	460	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCAGCTTGGGGGGAGGTG	0.535																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1378-1380)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)																																				SO:0001589	frameshift_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789314_153789315insG	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1384dupG	5.37:g.153789320_153789320dupG	ENSP00000297107:p.Trp460fs		Somatic				GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs	p.G460fs	NM_198321.3	NP_938080.1	WXS	Illumina GAIIx	Phase_I	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		9	1515_1516	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	460			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Frame_Shift_Ins	INS	ENST00000297107.6	37	c.1378_1379insG	CCDS4325.1																																																																																				0.535	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		7	185						7	185	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1741-1743)gggfs	p.G581fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	658					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.55																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1743)ccggggfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181821_154181822insG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747dupG	5.37:g.154181828_154181828dupG	ENSP00000336721:p.Gly581fs		Somatic					p.PG580fs	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1764_1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.1740_1741insG	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		13	303						13	303	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC			Somatic				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	p.PP251fs	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		23	446						23	446	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		Somatic				PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		12	340						12	340	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Somatic				DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	WXS	Illumina GAIIx	Phase_I	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		19	1515						19	1515	---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28334004	28334004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:28334004delT	ENST00000377255.3	+	7	1856	c.1559delT	c.(1558-1560)attfs	p.I520fs	ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.I372fs|ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.I520fs	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	520					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TTCACCCGAATTTCATACCTT	0.433																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1558-1560)atfs		zinc finger with KRAB and SCAN domains 3							110.0	109.0	109.0					6																	28334004		2203	4300	6503	SO:0001589	frameshift_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28334004delT	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1559delT	6.37:g.28334004delT	ENSP00000366465:p.Ile520fs		Somatic				ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.I520fs|ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.I372fs	p.I520fs	NM_001242894.1	NP_001229823.1	WXS	Illumina GAIIx	Phase_I	Q9BRR0	ZKSC3_HUMAN			7	1856	+			520					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Frame_Shift_Del	DEL	ENST00000377255.3	37	c.1559delT	CCDS4650.1																																																																																				0.433	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		126	202						126	202	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		16	362						16	362	---	---	---	---
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:30610713_30610714insC	ENST00000376485.4	+	10	923_924	c.893_894insC	c.(892-897)tgccccfs	p.CP298fs	ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.CP298fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.CP286fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.CP275fs|ATAT1_ENST00000376483.4_Frame_Shift_Ins_p.CP298fs|ATAT1_ENST00000468713.1_Intron					alpha tubulin acetyltransferase 1											cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658																																						ENST00000376483.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(892-894)tccfs		alpha tubulin acetyltransferase 1																																				SO:0001589	frameshift_variant	79969						tubulin N-acetyltransferase activity	g.chr6:30610713_30610714insC	AK023220	CCDS4683.2, CCDS54978.1, CCDS59002.1	6p21.32	2014-06-17	2010-10-11	2010-10-11	ENSG00000137343	ENSG00000137343	2.3.1.108		21186	protein-coding gene	gene with protein product	"""alpha-tubulin N-acetyltransferase"""	615556	"""chromosome 6 open reading frame 134"""	C6orf134		20829795	Standard	NM_024909		Approved	FLJ13158, Em:AB023049.7, MEC17	uc003nqv.3	Q5SQI0	OTTHUMG00000031219	ENST00000376485.4:c.899dupC	6.37:g.30610719_30610719dupC	ENSP00000365668:p.Cys298fs		Somatic				ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000468713.1_Intron	p.S298fs			WXS	Illumina GAIIx	Phase_I	Q5SQI0	ATAT_HUMAN			10	903_904	+			298						Frame_Shift_Ins	INS	ENST00000376485.4	37	c.893_894insC																																																																																					0.658	ATAT1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076449.2	NM_024909		7	605						7	605	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000211379.5_Splice_Site_p.Q942fs|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG			Somatic				BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice	p.A978_splice			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	7	296						7	296	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:31608920_31608921insC	ENST00000375964.6	-	19	2970_2971	c.2657_2658insG	c.(2656-2658)ggafs	p.G886fs	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.G916fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.G754fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.G880fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2746-2748)gcafs		BCL2-associated athanogene 6																																				SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608920_31608921insC	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2658dupG	6.37:g.31608926_31608926dupC	ENSP00000365131:p.Gly886fs		Somatic				BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs	p.A916fs			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			20	3036_3037	-			886					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Ins	INS	ENST00000375964.6	37	c.2747_2748insG	CCDS47403.1																																																																																				0.515	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		11	496						11	496	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000480039.1_Intron|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			8	517						8	517	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			19	379						19	379	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36196737	36196738	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:36196737_36196738insC	ENST00000357641.6	+	12	3591_3592	c.3338_3339insC	c.(3337-3342)gtccccfs	p.VP1113fs	BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.P1081fs|BRPF3_ENST00000543502.1_Frame_Shift_Ins_p.VP843fs|BRPF3_ENST00000339717.7_Frame_Shift_Ins_p.VP843fs|BRPF3_ENST00000534694.1_Frame_Shift_Ins_p.VP779fs|BRPF3_ENST00000443324.2_Frame_Shift_Ins_p.VP779fs	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1113	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCATCCCTGTCCCCCCGCTGG	0.584																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(3337-3339)gccfs		bromodomain and PHD finger containing, 3																																				SO:0001589	frameshift_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36196737_36196738insC	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3344dupC	6.37:g.36196743_36196743dupC	ENSP00000350267:p.Val1113fs		Somatic				BRPF3_ENST00000543502.1_Frame_Shift_Ins_p.A843fs|BRPF3_ENST00000339717.7_Frame_Shift_Ins_p.A843fs|BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.CP1080fs|BRPF3_ENST00000534694.1_Frame_Shift_Ins_p.A779fs|BRPF3_ENST00000443324.2_Frame_Shift_Ins_p.A779fs	p.A1113fs	NM_015695.2	NP_056510.2	WXS	Illumina GAIIx	Phase_I	Q9ULD4	BRPF3_HUMAN			12	3591_3592	+			1113			PWWP.		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Frame_Shift_Ins	INS	ENST00000357641.6	37	c.3338_3339insC	CCDS34437.1																																																																																				0.584	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		8	463						8	463	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)catfs	p.H147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					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)			ACACACCGTATGGGGGGCACAG	0.554																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(439-441)tacfs		tumor necrosis factor receptor superfamily, member 21																																				SO:0001589	frameshift_variant	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253988_47253989insG	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.440dupC	6.37:g.47253994_47253994dupG	ENSP00000296861:p.His147fs		Somatic					p.Y147fs	NM_014452.3	NP_055267.1	WXS	Illumina GAIIx	Phase_I	O75509	TNR21_HUMAN	Lung(136;0.189)		2	832_833	-			147					B2RDI9|Q0D2P5|Q96D86	Frame_Shift_Ins	INS	ENST00000296861.2	37	c.439_440insC	CCDS4921.1																																																																																				0.554	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		7	749						7	749	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)cccfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs		Somatic					p.P9fs	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	361_362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			10	234						10	234	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs		Somatic				HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		23	740						23	740	---	---	---	---
AIM1	202	broad.mit.edu	37	6	107011654	107011655	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:107011654_107011655delTG	ENST00000369066.3	+	19	5417_5418	c.4930_4931delTG	c.(4930-4932)tgcfs	p.C1644fs	AIM1_ENST00000535438.1_Frame_Shift_Del_p.C463fs	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGACTGCTGCCTGACGATT	0.49																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4930-4932)cfs		absent in melanoma 1																																				SO:0001589	frameshift_variant	202						sugar binding	g.chr6:107011654_107011655delTG	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4930_4931delTG	6.37:g.107011654_107011655delTG	ENSP00000358062:p.Cys1644fs		Somatic				AIM1_ENST00000535438.1_Frame_Shift_Del_p.C463fs	p.C1644fs	NM_001624.2	NP_001615.1	WXS	Illumina GAIIx	Phase_I	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	19	5417_5418	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1644			Ricin B-type lectin.		Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000369066.3	37	c.4930_4931delTG	CCDS34506.1																																																																																				0.490	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			46	150						46	150	---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108076790	108076791	+	Intron	INS	-	-	G	rs75302347|rs200943253	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:108076790_108076791insG	ENST00000369020.3	-	3	402				SCML4_ENST00000369022.2_Intron|SCML4_ENST00000369021.3_Frame_Shift_Ins_p.P18fs	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCCAGTGGAATGGGGGGGTTCT	0.48													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	111	0.0221645	0.0257	0.0	5008	,	,		15044	0.0625		0.004	False		,,,				2504	0.0102					ENST00000369021.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(52-54)cttfs		sex comb on midleg-like 4 (Drosophila)				79,4185		1,77,2054						-2.1	0.0		dbSNP_131	103	17,8237		0,17,4110	no	intron	SCML4	NM_198081.3		1,94,6164	A1A1,A1R,RR		0.206,1.8527,0.7669				96,12422				SO:0001627	intron_variant	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108076790_108076791insG		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.157-5773->C	6.37:g.108076797_108076797dupG			Somatic				SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron	p.L18fs			WXS	Illumina GAIIx	Phase_I	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	1	52_53	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	50					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Frame_Shift_Ins	INS	ENST00000369020.3	37	c.53_54insC	CCDS5060.2																																																																																				0.480	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		7	259						7	259	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111587105	111587106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:111587105_111587106insG	ENST00000368847.4	+	4	693_694	c.340_341insG	c.(340-342)tggfs	p.W114fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	114					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CTTGGCTATTTGGGGGGACAAA	0.416																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(340-342)gggfs		KIAA1919																																				SO:0001589	frameshift_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587105_111587106insG	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.346dupG	6.37:g.111587111_111587111dupG	ENSP00000357840:p.Trp114fs		Somatic					p.G114fs	NM_153369.2	NP_699200.2	WXS	Illumina GAIIx	Phase_I	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	693_694	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	114					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Frame_Shift_Ins	INS	ENST00000368847.4	37	c.340_341insG	CCDS5090.1																																																																																				0.416	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		7	185						7	185	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs		Somatic				SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	WXS	Illumina GAIIx	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		10	488						10	488	---	---	---	---
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C	rs200339078		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1111-1113)cccfs	p.P371fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	371					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.49																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(1108-1113)aaccccfs		uronyl-2-sulfotransferase																																				SO:0001589	frameshift_variant	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149395141_149395142insC	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.1117dupC	6.37:g.149395148_149395148dupC	ENSP00000356433:p.Pro371fs		Somatic				UST_ENST00000466695.1_3'UTR	p.NP370fs	NM_005715.2	NP_005706.1	WXS	Illumina GAIIx	Phase_I	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	8	1213_1214	+		Ovarian(120;0.0907)	370					B2RCX6	Frame_Shift_Ins	INS	ENST00000367463.4	37	c.1110_1111insC	CCDS5213.1																																																																																				0.490	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		7	235						7	235	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155750039	155750040	+	Frame_Shift_Ins	INS	-	-	G	rs79326507	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr6:155750039_155750040insG	ENST00000159060.2	-	9	1135_1136	c.1033_1034insC	c.(1033-1035)cagfs	p.Q345fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	345	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAAGTCCTCCTGGGGGGCAGAG	0.614																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1033-1035)ggafs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750039_155750040insG	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1034dupC	6.37:g.155750045_155750045dupG	ENSP00000159060:p.Gln345fs		Somatic					p.G345fs	NM_015718.2	NP_056533.1	WXS	Illumina GAIIx	Phase_I	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1135_1136	-		Breast(66;0.0183)	345			FAD-binding FR-type.		Q9HBJ9	Frame_Shift_Ins	INS	ENST00000159060.2	37	c.1033_1034insC	CCDS5250.1																																																																																				0.614	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			8	226						8	226	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)tggfs	p.W69fs	NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.W69fs|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(205-207)gggfs		nucleoporin like 2				6,4258		0,6,2126						4.9	1.0			85	5,8249		0,5,4122	no	frameshift	NUPL2	NM_007342.2		0,11,6248	A1A1,A1R,RR		0.0606,0.1407,0.0879				11,12507				SO:0001589	frameshift_variant	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224772_23224773insG	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.212dupG	7.37:g.23224779_23224779dupG	ENSP00000258742:p.Trp69fs		Somatic				AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs	p.G69fs	NM_007342.2	NP_031368.1	WXS	Illumina GAIIx	Phase_I	O15504	NUPL2_HUMAN			2	464_465	+			69					A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Ins	INS	ENST00000258742.5	37	c.205_206insG	CCDS5379.1																																																																																				0.406	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		10	166						10	166	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		14	316						14	316	---	---	---	---
TRIM4	89122	broad.mit.edu	37	7	99489838	99489839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:99489838_99489839insA	ENST00000355947.2	-	7	1579_1580	c.1450_1451insT	c.(1450-1452)tggfs	p.W484fs	TRIM4_ENST00000349062.2_Frame_Shift_Ins_p.W458fs	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	484	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TGGACTCAACCAAAAAAATGGC	0.505																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(1450-1452)gttfs		tripartite motif containing 4																																				SO:0001589	frameshift_variant	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489838_99489839insA	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1451dupT	7.37:g.99489845_99489845dupA	ENSP00000348216:p.Trp484fs		Somatic				TRIM4_ENST00000349062.2_Frame_Shift_Ins_p.V458fs	p.V484fs	NM_033017.3	NP_148977.2	WXS	Illumina GAIIx	Phase_I	Q9C037	TRIM4_HUMAN			7	1579_1580	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	484			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Frame_Shift_Ins	INS	ENST00000355947.2	37	c.1450_1451insT	CCDS5679.1																																																																																				0.505	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		9	505						9	505	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs		Somatic				SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	WXS	Illumina GAIIx	Phase_I	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		27	870						27	870	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100004397	100004398	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:100004397_100004398insA	ENST00000398027.2	-	12	1336_1337	c.1089_1090insT	c.(1087-1092)tttggafs	p.G364fs	ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.G244fs|ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.G365fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.G244fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	364	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTGTTTCTCCAAAAAACGTCA	0.48																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1087-1092)ttgagafs		zinc finger, CW type with PWWP domain 1																																				SO:0001589	frameshift_variant	55063						zinc ion binding	g.chr7:100004397_100004398insA	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1090dupT	7.37:g.100004403_100004403dupA	ENSP00000381109:p.Gly364fs		Somatic				ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.LR243fs|ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.LR364fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.LR243fs	p.LR363fs	NM_017984.4	NP_060454.3	WXS	Illumina GAIIx	Phase_I	Q9H0M4	ZCPW1_HUMAN			12	1336_1337	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		363			PWWP.		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Frame_Shift_Ins	INS	ENST00000398027.2	37	c.1089_1090insT	CCDS43623.1																																																																																				0.480	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		8	442						8	442	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs		Somatic					p.R119fs	NM_001283.3	NP_001274.1	WXS	Illumina GAIIx	Phase_I	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		8	148						8	148	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107572729	107572730	+	Frame_Shift_Ins	INS	-	-	C	rs57244800	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:107572729_107572730insC	ENST00000222399.6	-	28	4511_4512	c.4281_4282insG	c.(4279-4284)gggcctfs	p.P1428fs	LAMB1_ENST00000393561.1_Frame_Shift_Ins_p.P1452fs|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1428	Domain alpha.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CCACAGCCAGGCCCCCCACACT	0.584																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4351-4356)ggctggfs		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107572729_107572730insC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4282dupG	7.37:g.107572735_107572735dupC	ENSP00000222399:p.Pro1428fs		Somatic				LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.W1428fs	p.W1452fs			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			26	4537_4538	-			1428			Domain I.		Q14D91	Frame_Shift_Ins	INS	ENST00000222399.6	37	c.4353_4354insG	CCDS5750.1																																																																																				0.584	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		7	372						7	372	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)gggctafs	p.L642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.5																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1921-1926)ggtagcfs		Kell blood group, metallo-endopeptidase																																				SO:0001589	frameshift_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639979_142639980insC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1924dupG	7.37:g.142639985_142639985dupC	ENSP00000347409:p.Leu642fs		Somatic					p.S642fs	NM_000420.2	NP_000411.1	WXS	Illumina GAIIx	Phase_I	P23276	KELL_HUMAN			17	2397_2398	-	Melanoma(164;0.059)		642					B2RBV4|Q96RS8|Q99885	Frame_Shift_Ins	INS	ENST00000355265.2	37	c.1923_1924insG	CCDS34766.1																																																																																				0.500	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		14	1025						14	1025	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G	rs539049307	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr8:20004787_20004788insG	ENST00000276373.5	-	15	1711_1712	c.1445_1446insC	c.(1444-1446)ccgfs	p.P482fs	SLC18A1_ENST00000440926.1_Frame_Shift_Ins_p.P482fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000437980.1_Intron	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CTTCCTTTGCCGGGGGGCTCCG	0.5																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1444-1446)cgcfs		solute carrier family 18 (vesicular monoamine transporter), member 1			,,,	0,4264		0,0,2132					,,,	-1.9	1.0			62	4,8250		0,4,4123	no	frameshift,intron,frameshift,frameshift	SLC18A1	NM_003053.3,NM_001142325.1,NM_001142324.1,NM_001135691.2	,,,	0,4,6255	A1A1,A1R,RR		0.0485,0.0,0.032	,,,	,,,		4,12514				SO:0001589	frameshift_variant	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004787_20004788insG		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1446dupC	8.37:g.20004793_20004793dupG	ENSP00000276373:p.Pro482fs		Somatic				SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs	p.R482fs	NM_001135691.2	NP_001129163.1	WXS	Illumina GAIIx	Phase_I	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1915_1916	-			482					E9PDJ5|Q9BRE4	Frame_Shift_Ins	INS	ENST00000276373.5	37	c.1445_1446insC	CCDS6013.1																																																																																				0.500	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			7	328						7	328	---	---	---	---
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1681-1683)cccfs	p.P561fs	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.P525fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.P525fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	561					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(1678-1683)gcccccfs		dihydropyrimidinase-like 2																																				SO:0001589	frameshift_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26513183_26513184insC	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1686dupC	8.37:g.26513189_26513189dupC	ENSP00000309539:p.Pro561fs		Somatic	OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	787	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs	p.AP560fs	NM_001386.5	NP_001377.1	WXS	Illumina GAIIx	Phase_I	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	14	2092_2093	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	560					A8K5H2|B4DR31|D3DSS7|O00424	Frame_Shift_Ins	INS	ENST00000311151.5	37	c.1680_1681insC	CCDS6051.1																																																																																				0.644	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		9	527						9	527	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs		Somatic				ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	p.P1552fs	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		7	194						7	194	---	---	---	---
KIAA0020	9933	broad.mit.edu	37	9	2827084	2827085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:2827084_2827085insG	ENST00000397885.2	-	10	1229_1230	c.1023_1024insC	c.(1021-1026)cccaaafs	p.K342fs	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	342	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GATCTGAGTTTGGGGGGTGCAT	0.366																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(1021-1026)ccaactfs		KIAA0020																																				SO:0001589	frameshift_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2827084_2827085insG	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1024dupC	9.37:g.2827090_2827090dupG	ENSP00000380982:p.Lys342fs		Somatic					p.T342fs	NM_014878.4	NP_055693.4	WXS	Illumina GAIIx	Phase_I	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	10	1229_1230	-			342			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Frame_Shift_Ins	INS	ENST00000397885.2	37	c.1023_1024insC	CCDS6448.2																																																																																				0.366	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		7	160						7	160	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)ttcfs	p.F7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.F7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(19-21)tcafs		relaxin 2			,	5,4259		0,5,2127					,	0.2	0.1			64	20,8234		0,20,4107	no	frameshift,frameshift	RLN2	NM_134441.1,NM_005059.2	,	0,25,6234	A1A1,A1R,RR		0.2423,0.1173,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304560_5304561insA		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.21dupT	9.37:g.5304568_5304568dupA	ENSP00000371040:p.Phe7fs		Somatic				RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	p.S7fs	NM_134441.2	NP_604390.1	WXS	Illumina GAIIx	Phase_I	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	408_409	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	7					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Frame_Shift_Ins	INS	ENST00000381627.3	37	c.20_21insT	CCDS6460.1																																																																																				0.535	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		7	315						7	315	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4116_4117insC	c.(4117-4119)ccc>Cccc	p.P1373fs	ADAMTSL1_ENST00000380545.5_Splice_Site_p.P74fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1373						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.e23-1		ADAMTS-like 1																																				SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18829842_18829843insC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4115-1->C	9.37:g.18829849_18829849dupC			Somatic				ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	p.DP1372_splice	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	23	4455_4456	+			1372					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Splice_Site	INS	ENST00000380548.4	37	c.4114_splice	CCDS47954.1																																																																																				0.564	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Frame_Shift_Ins	8	215						8	215	---	---	---	---
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G	rs202019820		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)cccaagfs	p.K165fs	FAM219A_ENST00000379084.1_Splice_Site_p.N147fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.K163fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.K152fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.K136fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.K148fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.K146fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644																																						ENST00000445726.1																			0											c.(490-495)ccagtcfs		family with sequence similarity 219, member A																																				SO:0001589	frameshift_variant	203259							g.chr9:34401027_34401028insG	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.493dupC	9.37:g.34401034_34401034dupG	ENSP00000392452:p.Lys165fs		Somatic				FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs	p.V165fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	WXS	Illumina GAIIx	Phase_I	Q8IW50	CI025_HUMAN			6	798_799	-			165					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Frame_Shift_Ins	INS	ENST00000445726.1	37	c.492_493insC	CCDS55304.1																																																																																				0.644	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		7	129						7	129	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs		Somatic				PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	p.F788fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		17	299						17	299	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:95649123_95649124insC	ENST00000446878.1	+	0	1719				ANKRD19P_ENST00000473204.1_RNA																							GCAATCTAGCACCCCCCAAAAG	0.54																																						ENST00000473204.1																			0																																																			138649							g.chr9:95649123_95649124insC																													9.37:g.95649129_95649129dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	2259	+									RNA	INS	ENST00000446878.1	37																																																																																						0.540	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000316907.1			9	366						9	366	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																						ENST00000374865.4																			1	Substitution - coding silent(1)	p.P150P(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)	5						c.(448-453)ccatttfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs		Somatic				MRPL50_ENST00000539624.1_Intron	p.F151fs	NM_019051.2	NP_061924.1	WXS	Illumina GAIIx	Phase_I	Q8N5N7	RM50_HUMAN			2	471_472	-		Acute lymphoblastic leukemia(62;0.0559)	151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		8	358						8	358	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs		Somatic					p.V592fs	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		7	348						7	348	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs		Somatic				PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs	p.G211fs			WXS	Illumina GAIIx	Phase_I	O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			9	689						9	689	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.P990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.P1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(3013-3015)cagfs		FERM domain containing 4A																																				SO:0001589	frameshift_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696451_13696452insG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3015dupC	10.37:g.13696458_13696458dupG	ENSP00000350032:p.Pro1005fs		Somatic				FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs	p.Q1005fs	NM_018027.3	NP_060497.3	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			23	3382_3383	-			1005			Ser-rich.		A7E2Y3|Q5T377	Frame_Shift_Ins	INS	ENST00000357447.2	37	c.3014_3015insC	CCDS7101.1																																																																																				0.535	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		9	244						9	244	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G	rs573639267	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:21962451_21962452insG	ENST00000307729.7	+	11	1402_1403	c.1224_1225insG	c.(1225-1227)gggfs	p.G409fs	MLLT10_ENST00000377072.3_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.G409fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	409	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		1	Insertion - Frameshift(1)	p.V411fs*3(1)	large_intestine(1)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1222-1227)gaggggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10																																				SO:0001589	frameshift_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962451_21962452insG	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1231dupG	10.37:g.21962458_21962458dupG	ENSP00000307411:p.Gly409fs		Somatic				MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	p.EG408fs	NM_004641.3	NP_004632.1	WXS	Illumina GAIIx	Phase_I	P55197	AF10_HUMAN			11	1572_1573	+			408			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Ins	INS	ENST00000307729.7	37	c.1224_1225insG	CCDS55708.1																																																																																				0.436	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			17	509						17	509	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26312957	26312958	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:26312957_26312958insC	ENST00000265944.5	+	9	904_905	c.738_739insC	c.(739-741)cccfs	p.P247fs	MYO3A_ENST00000543632.1_Frame_Shift_Ins_p.P247fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTAGGAATCCACCCCCAAAACT	0.386																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(736-741)ccccccfs		myosin IIIA																																				SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26312957_26312958insC	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.743dupC	10.37:g.26312962_26312962dupC	ENSP00000265944:p.Pro247fs		Somatic				MYO3A_ENST00000543632.1_Frame_Shift_Ins_p.PP246fs	p.PP246fs	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	Q8NEV4	MYO3A_HUMAN			9	904_905	+			246			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Ins	INS	ENST00000265944.5	37	c.738_739insC	CCDS7148.1																																																																																				0.386	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		9	357						9	357	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27322258	27322259	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:27322258_27322259insT	ENST00000376087.4	-	25	3867_3868	c.3702_3703insA	c.(3700-3705)aaacaafs	p.Q1235fs	ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.Q792fs|ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.Q1251fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1234					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGGG	0.322																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3700-3705)aaaatcfs		ankyrin repeat domain 26																																				SO:0001589	frameshift_variant	22852					centrosome		g.chr10:27322258_27322259insT	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3703dupA	10.37:g.27322265_27322265dupT	ENSP00000365255:p.Gln1235fs		Somatic				ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.I1251fs|ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.I792fs	p.I1235fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	WXS	Illumina GAIIx	Phase_I	Q9UPS8	ANR26_HUMAN			25	3867_3868	-			1234					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Frame_Shift_Ins	INS	ENST00000376087.4	37	c.3702_3703insA	CCDS41499.1																																																																																				0.322	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			7	350						7	350	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		9	257						9	257	---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)ggafs	p.G349fs	ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.G349fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401																																						ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1045-1047)gaafs		zinc finger protein 248																																				SO:0001589	frameshift_variant	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121236_38121237insC	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1047dupG	10.37:g.38121242_38121242dupC	ENSP00000379208:p.Gly349fs		Somatic				ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron	p.E349fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	WXS	Illumina GAIIx	Phase_I	Q8NDW4	ZN248_HUMAN			6	1596_1597	-			349					Q8NDV8|Q9UMP3	Frame_Shift_Ins	INS	ENST00000395867.3	37	c.1046_1047insG	CCDS7194.1																																																																																				0.401	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		8	427						8	427	---	---	---	---
FAM21A	387680	broad.mit.edu	37	10	47909192	47909193	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:47909192_47909193insC	ENST00000358474.5	+	10	762_763	c.762_763insC	c.(763-765)cccfs	p.P255fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		255					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACTTATTCACACCCCCCAAGCT	0.515																																						ENST00000358474.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(760-765)acccccfs		family with sequence similarity 21, member B																																				SO:0001589	frameshift_variant	55747				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:47909192_47909193insC																												ENST00000358474.5:c.768dupC	10.37:g.47909198_47909198dupC	ENSP00000351259:p.Pro255fs		Somatic					p.TP254fs	NM_018232.1	NP_060702.1	WXS	Illumina GAIIx	Phase_I	Q5SNT6	FA21B_HUMAN			10	762_763	+			254						Frame_Shift_Ins	INS	ENST00000358474.5	37	c.762_763insC	CCDS44379.1																																																																																				0.515	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			14	506						14	506	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1719)caccccfs	p.HP572fs	CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.HP572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.HP276fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.51																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1714-1716)cccfs		cadherin-related family member 1																																				SO:0001589	frameshift_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972096_85972097insC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1721dupC	10.37:g.85972102_85972102dupC	ENSP00000361189:p.His572fs		Somatic				CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs	p.P572fs	NM_033100.2	NP_149091.1	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			15	1818_1819	+			572			Cadherin 5.		Q69YZ8|Q8IXY5	Frame_Shift_Ins	INS	ENST00000372117.3	37	c.1715_1716insC	CCDS7372.1																																																																																				0.510	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		7	606						7	606	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs		Somatic					p.R317fs	NM_001308.2	NP_001299.1	WXS	Illumina GAIIx	Phase_I	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		10	830						10	830	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103901076	103901077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:103901076_103901077insC	ENST00000278070.2	+	5	2850_2851	c.2811_2812insC	c.(2812-2814)cccfs	p.P938fs	PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P938fs|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCTTGCCTGCCCCCCCCACC	0.604																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2809-2814)ctccccfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1																																				SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901076_103901077insC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2819dupC	10.37:g.103901084_103901084dupC	ENSP00000278070:p.Pro938fs		Somatic				PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs	p.LP937fs	NM_015062.3	NP_055877.3	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2850_2851	+		Colorectal(252;0.122)	937			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.2811_2812insC	CCDS7529.1																																																																																				0.604	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		8	71						8	71	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(589-591)cccfs	p.P197fs	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(586-591)gtccccfs		TruB pseudouridine (psi) synthase family member 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116730191_116730192insC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.595dupC	10.37:g.116730198_116730198dupC	ENSP00000298746:p.Pro197fs		Somatic					p.VP196fs	NM_139169.4	NP_631908.1	WXS	Illumina GAIIx	Phase_I	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	5	649_650	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	196					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.588_589insC	CCDS7591.1																																																																																				0.317	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		10	219						10	219	---	---	---	---
OR51E1	143503	broad.mit.edu	37	11	4674216	4674217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:4674216_4674217insG	ENST00000396952.5	+	2	1110_1111	c.460_461insG	c.(460-462)cggfs	p.R154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGCA	0.559																																						ENST00000396952.5																			1	Deletion - Frameshift(1)	p.A155fs*3(1)	ovary(1)	NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(460-462)gggfs		olfactory receptor, family 51, subfamily E, member 1																																				SO:0001589	frameshift_variant	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674216_4674217insG	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.466dupG	11.37:g.4674222_4674222dupG	ENSP00000380155:p.Arg154fs		Somatic				OR51E1_ENST00000530215.1_Intron	p.G154fs	NM_152430.3	NP_689643.2	WXS	Illumina GAIIx	Phase_I	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1110_1111	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	153					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Frame_Shift_Ins	INS	ENST00000396952.5	37	c.460_461insG	CCDS31358.2																																																																																				0.559	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		17	829						17	829	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)cccagcfs	p.S788fs	EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.S788fs|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.S788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.S750fs	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406																																						ENST00000526148.1																			1	Substitution - Missense(1)	p.S788R(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2359-2364)ccgcgafs		eukaryotic translation initiation factor 4 gamma, 2																																				SO:0001589	frameshift_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820934_10820935insG	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2362dupC	11.37:g.10820941_10820941dupG	ENSP00000433664:p.Ser788fs		Somatic				EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs	p.R788fs	NM_001172705.1	NP_001166176.1	WXS	Illumina GAIIx	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2871_2872	-			788			W2.			Frame_Shift_Ins	INS	ENST00000526148.1	37	c.2361_2362insC	CCDS31428.1																																																																																				0.406	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		10	149						10	149	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs		Somatic				PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	p.D101fs	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		47	947						47	947	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs		Somatic				LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	p.A1835fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		8	175						8	175	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs		Somatic				SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000528098.1_5'UTR	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		12	311						12	311	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs		Somatic				TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	p.NP128fs	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		15	435						15	435	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs		Somatic				CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	p.C263fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		9	613						9	613	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|LRRN4CL_ENST00000317449.4_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000278893.7_Intron			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs		Somatic				BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs	p.D325fs			WXS	Illumina GAIIx	Phase_I	Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		11	177						11	177	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs		Somatic				DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	WXS	Illumina GAIIx	Phase_I	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			7	231						7	231	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2044-2046)cccfs	p.P682fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.P682fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	682					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2041-2046)atccccfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1																																				SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194406_70194407insC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2049dupC	11.37:g.70194412_70194412dupC	ENSP00000253925:p.Pro682fs		Somatic				PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	p.IP681fs	NM_003626.3	NP_003617.1	WXS	Illumina GAIIx	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2258_2259	+			681					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Ins	INS	ENST00000253925.7	37	c.2043_2044insC	CCDS31627.1																																																																																				0.554	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		10	630						10	630	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Intron	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:85435355_85435356insG	ENST00000528231.1	-	8	1737				SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.P1239fs	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.48																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3715-3717)cgafs		synaptotagmin-like 2																																				SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435355_85435356insG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3353->C	11.37:g.85435362_85435362dupG			Somatic				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron	p.R1239fs	NM_206928.2	NP_996811.1	WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3715_3716	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	400					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Ins	INS	ENST00000528231.1	37	c.3716_3717insC	CCDS53688.1																																																																																				0.480	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		12	259						12	259	---	---	---	---
BACE1	23621	broad.mit.edu	37	11	117167622	117167623	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:117167622_117167623insG	ENST00000313005.6	-	2	776_777	c.316_317insC	c.(316-318)cacfs	p.H106fs	BACE1_ENST00000428381.2_Frame_Shift_Ins_p.H106fs|BACE1_ENST00000392937.6_5'Flank|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.H106fs|BACE1_ENST00000510630.1_5'Flank|BACE1_ENST00000513780.1_Frame_Shift_Ins_p.H106fs|BACE1_ENST00000445823.2_Frame_Shift_Ins_p.H106fs	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	106					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CAGGAAGGGGTGGGGGGCAGCA	0.569																																						ENST00000313005.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(316-318)cccfs		beta-site APP-cleaving enzyme 1																																				SO:0001589	frameshift_variant	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117167622_117167623insG	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.317dupC	11.37:g.117167628_117167628dupG	ENSP00000318585:p.His106fs		Somatic				BACE1_ENST00000445823.2_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000428381.2_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Frame_Shift_Ins_p.P106fs	p.P106fs	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	WXS	Illumina GAIIx	Phase_I	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	2	776_777	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	106					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Frame_Shift_Ins	INS	ENST00000313005.6	37	c.316_317insC	CCDS8383.1																																																																																				0.569	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			7	305						7	305	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs		Somatic				CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			WXS	Illumina GAIIx	Phase_I	Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		11	286						11	286	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		7	1110						7	1110	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129827737	129827738	+	Frame_Shift_Ins	INS	-	-	G	rs201927504		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:129827737_129827738insG	ENST00000360871.3	-	3	368_369	c.137_138insC	c.(136-138)ccafs	p.P46fs	PRDM10_ENST00000358825.5_Frame_Shift_Ins_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Ins_p.P46fs	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	46				P -> S (in Ref. 6; AAI12935). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCACCTGCTGTGGGGGGCGAAC	0.545																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(136-138)ccafs		PR domain containing 10																																				SO:0001589	frameshift_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129827737_129827738insG	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.138dupC	11.37:g.129827743_129827743dupG	ENSP00000354118:p.Pro46fs		Somatic				PRDM10_ENST00000528746.1_Frame_Shift_Ins_p.P46fs|PRDM10_ENST00000360871.3_Frame_Shift_Ins_p.P46fs	p.P46fs	NM_020228.2	NP_064613.2	WXS	Illumina GAIIx	Phase_I	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	3	368_369	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	46					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Frame_Shift_Ins	INS	ENST00000360871.3	37	c.137_138insC	CCDS8484.1																																																																																				0.545	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		13	640						13	640	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs		Somatic				IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		11	160						11	160	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048585_134048586insG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2726dupC	11.37:g.134048592_134048592dupG	ENSP00000433681:p.Gln909fs		Somatic					p.G909fs	NM_015261.2	NP_056076.1	WXS	Illumina GAIIx	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789_2790	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.2725_2726insC	CCDS31723.1																																																																																				0.525	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		7	308						7	308	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153463_6153464insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs		Somatic					p.R812fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	302						8	302	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs		Somatic				CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		14	425						14	425	---	---	---	---
M6PR	4074	broad.mit.edu	37	12	9095101	9095102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:9095101_9095102insC	ENST00000000412.3	-	6	1089_1090	c.621_622insG	c.(619-624)gggttcfs	p.F208fs		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	208					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TGGTATAGGAACCCCCCAACAA	0.45																																						ENST00000000412.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11						c.(619-624)ggtcctfs		mannose-6-phosphate receptor (cation dependent)																																				SO:0001589	frameshift_variant	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9095101_9095102insC		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.622dupG	12.37:g.9095107_9095107dupC	ENSP00000000412:p.Phe208fs		Somatic					p.P208fs	NM_002355.3	NP_002346.1	WXS	Illumina GAIIx	Phase_I	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	6	1089_1090	-		Hepatocellular(102;0.137)	208					A8K528|D3DUV5	Frame_Shift_Ins	INS	ENST00000000412.3	37	c.621_622insG	CCDS8598.1																																																																																				0.450	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			8	391						8	391	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)ccafs	p.P51fs	PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(151-153)cccfs		proline-rich protein BstNI subfamily 1																																				SO:0001589	frameshift_variant	5542					extracellular region		g.chr12:11506884_11506885insG		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.153dupC	12.37:g.11506890_11506890dupG	ENSP00000420826:p.Pro51fs		Somatic				PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs	p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	WXS	Illumina GAIIx	Phase_I	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	189_190	-			234					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Ins	INS	ENST00000500254.2	37	c.152_153insC	CCDS8642.1																																																																																				0.579	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		11	1057						11	1057	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546135	11546137	+	In_Frame_Del	DEL	TGC	TGC	-	rs377670181		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:11546135_11546137delTGC	ENST00000389362.4	-	3	910_912	c.875_877delGCA	c.(874-879)agcaag>aag	p.S292del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	292	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTCGGGACTTGCTGCCTCCTTG	0.606																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(874-879)aag>a		proline-rich protein BstNI subfamily 2				3,4247		0,3,2122							0.1			209	4,8240		0,4,4118	no	coding	PRB2	NM_006248.3		0,7,6240	A1A1,A1R,RR		0.0485,0.0706,0.056				7,12487				SO:0001651	inframe_deletion	653247							g.chr12:11546135_11546137delTGC	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.875_877delGCA	12.37:g.11546138_11546140delTGC	ENSP00000374013:p.Ser292del		Somatic				PRB1_ENST00000546254.1_Intron	p.SK292del	NM_006248.3	NP_006239.3	WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	910_912	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.875_877delGCA	CCDS41757.2																																																																																				0.606	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	1267						7	1267	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			17	1020						17	1020	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	203						14	203	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cctfs	p.P520fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.55																																						ENST00000261167.2																			1	Insertion - Frameshift(1)	p.G521fs*28(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1558-1560)cggfs		WW domain binding protein 11																																				SO:0001589	frameshift_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940365_14940366insG	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1560dupC	12.37:g.14940372_14940372dupG	ENSP00000261167:p.Pro520fs		Somatic				WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	p.R520fs	NM_016312.2	NP_057396.1	WXS	Illumina GAIIx	Phase_I	Q9Y2W2	WBP11_HUMAN			12	1792_1793	-			520			Pro-rich.		Q96AY8	Frame_Shift_Ins	INS	ENST00000261167.2	37	c.1559_1560insC	CCDS8666.1																																																																																				0.550	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		12	246						12	246	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1191)gtggggfs	p.VG396fs	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	396					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATCTACATCGTGGGGGGGTGTC	0.594																																						ENST00000381271.2																			0											c.(1186-1188)gggfs		kelch-like family member 42																																				SO:0001589	frameshift_variant	57542							g.chr12:27950768_27950769insG	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1194dupG	12.37:g.27950775_27950775dupG	ENSP00000370671:p.Val396fs		Somatic					p.G396fs	NM_020782.1	NP_065833.1	WXS	Illumina GAIIx	Phase_I					3	1498_1499	+								Q2VPK1|Q8N334	Frame_Shift_Ins	INS	ENST00000381271.2	37	c.1187_1188insG	CCDS31763.1																																																																																				0.594	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		25	464						25	464	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46315840	46315841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:46315840_46315841insT	ENST00000369367.3	-	15	4615_4616	c.4382_4383insA	c.(4381-4383)aacfs	p.N1461fs	SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.N1461fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.N1269fs|SCAF11_ENST00000465950.1_Frame_Shift_Ins_p.N1146fs|SCAF11_ENST00000550629.1_Intron	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1461					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						TTCAGCCTATGTTTTTTTCAGT	0.376																																						ENST00000465950.1																			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.(3436-3438)aatfs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46315840_46315841insT	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.4383dupA	12.37:g.46315847_46315847dupT	ENSP00000358374:p.Asn1461fs		Somatic				SCAF11_ENST00000369367.3_Frame_Shift_Ins_p.N1461fs|SCAF11_ENST00000419565.2_Frame_Shift_Ins_p.N1461fs|SCAF11_ENST00000549162.1_Frame_Shift_Ins_p.N1269fs|SCAF11_ENST00000550629.1_Intron	p.N1146fs			WXS	Illumina GAIIx	Phase_I	Q99590	SCAFB_HUMAN			5	4646_4647	-			1461					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Ins	INS	ENST00000369367.3	37	c.3437_3438insA	CCDS8748.2																																																																																				0.376	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	422						8	422	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)cccgacfs	p.D37fs	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.D37fs	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(106-111)ccacttfs		achalasia, adrenocortical insufficiency, alacrimia																																				SO:0001589	frameshift_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715141_53715142insG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.109dupC	12.37:g.53715147_53715147dupG	ENSP00000209873:p.Asp37fs		Somatic				AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs	p.L37fs	NM_015665.5	NP_056480.1	WXS	Illumina GAIIx	Phase_I	Q9NRG9	AAAS_HUMAN			1	273_274	-			37					Q5JB47|Q9NWI6|Q9UG19	Frame_Shift_Ins	INS	ENST00000209873.4	37	c.108_109insC	CCDS8856.1																																																																																				0.653	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			7	216						7	216	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs		Somatic				PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	WXS	Illumina GAIIx	Phase_I	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		19	251						19	251	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs		Somatic				DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs	p.PP723fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			12	348						12	348	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs		Somatic				IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|RP11-603J24.4_ENST00000551846.1_RNA	p.G579fs			WXS	Illumina GAIIx	Phase_I	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		14	795						14	795	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:56559112_56559113insG	ENST00000267064.4	-	26	3214_3215	c.3128_3129insC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1074fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3220-3222)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559112_56559113insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3129dupC	12.37:g.56559120_56559120dupG	ENSP00000267064:p.Pro1043fs		Somatic				SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|RP11-977G19.5_ENST00000553176.1_RNA	p.R1074fs	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3326_3327	-			1043			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3221_3222insC	CCDS8907.1																																																																																				0.574	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			19	283						19	283	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G	rs192511809	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)ccafs	p.P299fs	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P299fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	299	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.49			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(895-897)cgafs		nascent polypeptide-associated complex alpha subunit																																				SO:0001589	frameshift_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114417_57114418insG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.897dupC	12.37:g.57114424_57114424dupG	ENSP00000403817:p.Pro299fs		Somatic				NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000551793.1_Intron	p.R299fs	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	1177_1178	-			0						Frame_Shift_Ins	INS	ENST00000454682.1	37	c.896_897insC																																																																																					0.490	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		8	89						8	89	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs		Somatic					p.*G1487fs	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		18	260						18	260	---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58143030	58143031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:58143030_58143031insG	ENST00000257904.6	-	7	1118_1119	c.753_754insC	c.(751-756)cccagafs	p.R252fs	CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR|CDK4_ENST00000551888.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGGGCCCTCTGGGGGGAAAGG	0.624			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(751-756)ccgaggfs		cyclin-dependent kinase 4																																				SO:0001589	frameshift_variant	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58143030_58143031insG	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.754dupC	12.37:g.58143036_58143036dupG	ENSP00000257904:p.Arg252fs		Somatic				CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_5'UTR	p.R252fs	NM_000075.3	NP_000066.1	WXS	Illumina GAIIx	Phase_I	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		7	1118_1119	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		252			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Frame_Shift_Ins	INS	ENST00000257904.6	37	c.753_754insC	CCDS8953.1																																																																																				0.624	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		7	242						7	242	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000478070.1_3'UTR|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs		Somatic				MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs	p.NP318fs	NM_002392.4	NP_002383.2	WXS	Illumina GAIIx	Phase_I	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		16	445						16	445	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		15	254						15	254	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs		Somatic				UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		14	281						14	281	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs		Somatic				HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	p.R4223fs	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		14	319						14	319	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs		Somatic					p.V116fs	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		22	362						22	362	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88330396	88330397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr13:88330396_88330397insC	ENST00000325089.6	+	2	2972_2973	c.2753_2754insC	c.(2752-2757)agccccfs	p.SP918fs	SLITRK5_ENST00000400028.3_Frame_Shift_Ins_p.SP677fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	918					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.S918I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGCTCTACAGCCCCCCGAGTG	0.545																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.S918I(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2752-2754)accfs		SLIT and NTRK-like family, member 5																																				SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88330396_88330397insC	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2759dupC	13.37:g.88330402_88330402dupC	ENSP00000366283:p.Ser918fs		Somatic				SLITRK5_ENST00000400028.3_Frame_Shift_Ins_p.T677fs	p.T918fs	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	O94991	SLIK5_HUMAN			2	2972_2973	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		918					B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Ins	INS	ENST00000325089.6	37	c.2753_2754insC	CCDS9465.1																																																																																				0.545	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	134						7	134	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs		Somatic					p.P57fs	NM_001004724.1	NP_001004724.1	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			10	1261						10	1261	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2203-2205)gggfs	p.G735fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.G735fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	735						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2200-2205)gaggggfs		Rho guanine nucleotide exchange factor (GEF) 40																																				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21546603_21546604insG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2209dupG	14.37:g.21546610_21546610dupG	ENSP00000298694:p.Gly735fs		Somatic				ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs	p.EG734fs			WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			10	2329_2330	+			734					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.2202_2203insG	CCDS32041.1																																																																																				0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			11	242						11	242	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)gatfs		potassium voltage-gated channel, subfamily H (eag-related), member 5			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.D964fs	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158_3159	-			964					C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		17	368						17	368	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3489)gtggggfs	p.VG1162fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.VG1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.VG637fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.VG1162fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3484-3486)gggfs		signal-induced proliferation-associated 1 like 1																																				SO:0001589	frameshift_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72165808_72165809insG	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3491dupG	14.37:g.72165814_72165814dupG	ENSP00000450832:p.Val1162fs		Somatic				SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs	p.G1162fs	NM_015556.1	NP_056371.1	WXS	Illumina GAIIx	Phase_I	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	11	3833_3834	+			1162					J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Ins	INS	ENST00000555818.1	37	c.3485_3486insG	CCDS9807.1																																																																																				0.495	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	393						7	393	---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723|rs121912712	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)cccgagfs	p.E387fs	SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.E387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch; dbSNP:rs121912712).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACTTGACCTCGGGGGGGATAG	0.49																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24	GRCh37	CD890162|CI941951	SERPINA1	D|I	rs121912712|rs143329723	c.(1156-1161)ccaggtfs		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)																																			SO:0001589	frameshift_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94844884_94844885insG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1159dupC	14.37:g.94844891_94844891dupG	ENSP00000416066:p.Glu387fs		Somatic				SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs	p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	WXS	Illumina GAIIx	Phase_I	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	7	1730_1731	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	387		E -> K (in Christchurch).	RCL.		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Ins	INS	ENST00000448921.1	37	c.1158_1159insC	CCDS9925.1																																																																																				0.490	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		8	169						8	169	---	---	---	---
IGHG3	3502	broad.mit.edu	37	14	106236280	106236281	+	RNA	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr14:106236280_106236281insG	ENST00000390551.2	-	0	522_523							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGGGTTTTGGGGGGAAGAG	0.594																																						ENST00000390551.2																			0																																																			3502							g.chr14:106236280_106236281insG	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236286_106236286dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	522_523	-								A2NU35	RNA	INS	ENST00000390551.2	37																																																																																						0.594	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		10	275						10	275	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	WXS	Illumina GAIIx	Phase_I	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			23	878						23	878	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25456924	25456925	+	RNA	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:25456924_25456925insG	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGTGTGGGCAGGGGGGGTGCC	0.554																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25456924_25456925insG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25456931_25456931dupG			Somatic				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1		WXS	Illumina GAIIx	Phase_I					0	2516	+									RNA	INS	ENST00000424208.1	37																																																																																						0.554	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	113						7	113	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13153-13155)gtafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63918305_63918306insG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs		Somatic					p.V4385fs	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			71	13240_13241	-			4385					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.13153_13154insC	CCDS45277.1																																																																																				0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		8	122						8	122	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4222-4224)cccfs	p.P1408fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1408						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.47											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4219-4224)ccccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64973566_64973567insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4227dupC	15.37:g.64973572_64973572dupC	ENSP00000316527:p.Pro1408fs		Somatic	OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080		p.PP1407fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			8	4349_4350	+			1407					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.4221_4222insC	CCDS32270.1																																																																																				0.470	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		8	731						8	731	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72270549	72270550	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:72270549_72270550insT	ENST00000356056.5	-	12	2278_2279	c.1806_1807insA	c.(1804-1809)aaaccafs	p.P603fs	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Frame_Shift_Ins_p.P603fs|MYO9A_ENST00000444904.1_Frame_Shift_Ins_p.P584fs|MYO9A_ENST00000564571.1_Frame_Shift_Ins_p.P603fs|MYO9A_ENST00000566885.1_Frame_Shift_Ins_p.P198fs|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	603	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGTCCTGTTGGTTTTTTGCTAA	0.332																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1804-1809)aacaacfs		myosin IXA																																				SO:0001589	frameshift_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72270549_72270550insT	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1807dupA	15.37:g.72270555_72270555dupT	ENSP00000348349:p.Pro603fs		Somatic				MYO9A_ENST00000564571.1_Frame_Shift_Ins_p.NN602fs|MYO9A_ENST00000444904.1_Frame_Shift_Ins_p.NN583fs|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Frame_Shift_Ins_p.NN197fs|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Frame_Shift_Ins_p.NN602fs	p.NN602fs	NM_006901.3	NP_008832.2	WXS	Illumina GAIIx	Phase_I	B2RTY4	MYO9A_HUMAN			12	2278_2279	-			602			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Frame_Shift_Ins	INS	ENST00000356056.5	37	c.1806_1807insA	CCDS10239.1																																																																																				0.332	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		8	449						8	449	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)gggcctfs	p.P223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(664-669)ggctggfs		chondroitin sulfate synthase 1																																				SO:0001589	frameshift_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775436_101775437insC	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.667dupG	15.37:g.101775443_101775443dupC	ENSP00000254190:p.Pro223fs		Somatic					p.W223fs	NM_014918.4	NP_055733.2	WXS	Illumina GAIIx	Phase_I	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	1141_1142	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		223					Q6UX38|Q7LFU5|Q9Y2J5	Frame_Shift_Ins	INS	ENST00000254190.3	37	c.666_667insG	CCDS10390.1																																																																																				0.614	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		7	157						7	157	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16142119	16142120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:16142119_16142120insC	ENST00000399410.3	+	10	1514_1515	c.1339_1340insC	c.(1339-1341)gccfs	p.A447fs	ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000399408.2_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.A447fs	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	447	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GATCTGGTCAGCCCCCCTGCAA	0.545																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1339-1341)cccfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)																																			SO:0001589	frameshift_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16142119_16142120insC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1345dupC	16.37:g.16142125_16142125dupC	ENSP00000382342:p.Ala447fs		Somatic				ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs	p.P447fs			WXS	Illumina GAIIx	Phase_I	P33527	MRP1_HUMAN			10	1514_1515	+			447			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Frame_Shift_Ins	INS	ENST00000399410.3	37	c.1339_1340insC	CCDS42122.1																																																																																				0.545	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		9	360						9	360	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20429493	20429494	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:20429493_20429494insG	ENST00000331849.4	+	3	464_465	c.317_318insG	c.(316-321)ctggggfs	p.LG106fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.LG106fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	106					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.L106L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCAATGTGCTGGGGGGTGCAT	0.619																																						ENST00000331849.4																			1	Substitution - coding silent(1)	p.L106L(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(316-318)cggfs		acyl-CoA synthetase medium-chain family member 5																																				SO:0001589	frameshift_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20429493_20429494insG		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.323dupG	16.37:g.20429499_20429499dupG	ENSP00000327916:p.Leu106fs		Somatic				ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.R106fs	p.R106fs	NM_017888.2	NP_060358.2	WXS	Illumina GAIIx	Phase_I	Q6NUN0	ACSM5_HUMAN			3	464_465	+			106					Q96AV1|Q96CX8|Q9NWV3	Frame_Shift_Ins	INS	ENST00000331849.4	37	c.317_318insG	CCDS10585.1																																																																																				0.619	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		7	229						7	229	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G	rs571509663		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTATAACAAAGGGGGGGGAAA	0.381																																						ENST00000546471.1																			0																																																			730092							g.chr16:21814059_21814060insG			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814067_21814067dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		7	122						7	122	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C	rs200740325	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1870-1872)cccfs	p.P624fs	POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.P624fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.P588fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.P624fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	624					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1867-1872)ttccccfs		polymerase (RNA) III (DNA directed) polypeptide E (80kD)																																				SO:0001589	frameshift_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22339833_22339834insC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1876dupC	16.37:g.22339840_22339840dupC	ENSP00000299853:p.Pro624fs		Somatic				POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs	p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	WXS	Illumina GAIIx	Phase_I	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	19	2036_2037	+			623					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Ins	INS	ENST00000299853.5	37	c.1869_1870insC	CCDS10605.1																																																																																				0.574	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	193						7	193	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802365	24802366	+	Frame_Shift_Ins	INS	-	-	G	rs139212478	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:24802365_24802366insG	ENST00000395799.3	+	6	2531_2532	c.2402_2403insG	c.(2401-2406)caggggfs	p.QG801fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.QG801fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	801	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCAAACTGCCAGGGGGGGTGGG	0.51																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2401-2403)cggfs		trinucleotide repeat containing 6A																																				SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802365_24802366insG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2409dupG	16.37:g.24802372_24802372dupG	ENSP00000379144:p.Gln801fs		Somatic				TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.R801fs	p.R801fs	NM_014494.2	NP_055309.2	WXS	Illumina GAIIx	Phase_I	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2531_2532	+			801			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Ins	INS	ENST00000395799.3	37	c.2402_2403insG	CCDS10624.2																																																																																				0.510	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		8	85						8	85	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31089750	31089751	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:31089750_31089751insT	ENST00000394979.2	+	1	2528_2529	c.2105_2106insT	c.(2104-2109)aatgaafs	p.E703fs	ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.E703fs			O15015	ZN646_HUMAN	zinc finger protein 646	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTAGAAGACAATGAAGGCCTGG	0.619																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2104-2106)agafs		zinc finger protein 646																																				SO:0001589	frameshift_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089750_31089751insT	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2106dupT	16.37:g.31089751_31089751dupT	ENSP00000378429:p.Glu703fs		Somatic				ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.R702fs	p.R702fs			WXS	Illumina GAIIx	Phase_I	O15015	ZN646_HUMAN			1	2528_2529	+			702					Q8IVD8	Frame_Shift_Ins	INS	ENST00000394979.2	37	c.2105_2106insT																																																																																					0.619	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		8	36						8	36	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422475	31422476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:31422475_31422476insC	ENST00000389202.2	+	13	1484_1485	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	479					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTCATTGGGGCCCCCCATTAC	0.649																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1435-1437)cccfs		integrin, alpha D																																				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422475_31422476insC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1441dupC	16.37:g.31422481_31422481dupC	ENSP00000373854:p.Ala479fs		Somatic					p.P479fs	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			13	1484_1485	+			479					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1435_1436insC	CCDS32438.1																																																																																				0.649	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		9	694						9	694	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(853-858)ctccccfs		naked cuticle homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667134_50667135insC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs		Somatic					p.LP285fs	NM_033119.4	NP_149110.1	WXS	Illumina GAIIx	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1079_1080	+		all_cancers(37;0.229)	285					B2RC39|Q8WZ08	Frame_Shift_Ins	INS	ENST00000268459.3	37	c.855_856insC	CCDS10743.1																																																																																				0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			9	125						9	125	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57485112	57485113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:57485112_57485113insC	ENST00000262507.6	+	2	303_304	c.234_235insC	c.(235-237)cccfs	p.P79fs	COQ9_ENST00000567933.1_Frame_Shift_Ins_p.P79fs|COQ9_ENST00000567072.1_Frame_Shift_Ins_p.P79fs|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	79					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTCTCATTCACCCCCCAGGTA	0.495																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(232-237)tcccccfs		coenzyme Q9																																				SO:0001589	frameshift_variant	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57485112_57485113insC	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.240dupC	16.37:g.57485118_57485118dupC	ENSP00000262507:p.Pro79fs		Somatic				COQ9_ENST00000567933.1_Frame_Shift_Ins_p.SP78fs|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Frame_Shift_Ins_p.SP78fs	p.SP78fs	NM_020312.3	NP_064708.1	WXS	Illumina GAIIx	Phase_I	O75208	COQ9_HUMAN			2	303_304	+			78					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Frame_Shift_Ins	INS	ENST00000262507.6	37	c.234_235insC	CCDS32459.1																																																																																				0.495	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		7	228						7	228	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	203						extracellular region (GO:0005576)											CTTTTTCAGATCCCCCCTTCTG	0.455																																						ENST00000429990.1																			0											c.e6-1		nuclear pore complex interacting protein family, member B15																																				SO:0001630	splice_region_variant	440348							g.chr16:74423894_74423895insC	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.607-1->C	16.37:g.74423900_74423900dupC			Somatic					p.T203_splice			WXS	Illumina GAIIx	Phase_I					6	704_705	+								C9J9U8	Splice_Site	INS	ENST00000429990.1	37	c.606_splice																																																																																					0.455	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059	Frame_Shift_Ins	9	951						9	951	---	---	---	---
CFDP1	10428	broad.mit.edu	37	16	75446448	75446449	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:75446448_75446449insG	ENST00000283882.3	-	3	518_519	c.386_387insC	c.(385-387)ccafs	p.P129fs	CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000561887.1_5'Flank	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	129	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CTTGTGTACTTGGGGGCACTTT	0.455																																						ENST00000283882.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(385-387)cagfs		craniofacial development protein 1																																				SO:0001589	frameshift_variant	10428				multicellular organismal development			g.chr16:75446448_75446449insG	AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.387dupC	16.37:g.75446453_75446453dupG	ENSP00000283882:p.Pro129fs		Somatic				CFDP1_ENST00000564286.1_5'UTR	p.Q129fs	NM_006324.2	NP_006315.1	WXS	Illumina GAIIx	Phase_I	Q9UEE9	CFDP1_HUMAN			3	518_519	-			129			Glu-rich.		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Frame_Shift_Ins	INS	ENST00000283882.3	37	c.386_387insC	CCDS10916.1																																																																																				0.455	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		11	1515						11	1515	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tatccc>tac	p.P360del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	360					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(1075-1080)tac>ta		telomeric repeat binding factor 2, interacting protein																																				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690386_75690388delTCC	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.1077_1079delTCC	16.37:g.75690386_75690388delTCC	ENSP00000300086:p.Pro360del		Somatic					p.YP359del	NM_018975.3	NP_061848.2	WXS	Illumina GAIIx	Phase_I	Q9NYB0	TE2IP_HUMAN			3	1174_1176	+			359					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.1077_1079delTCC	CCDS32491.1																																																																																				0.453	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		10	529						10	529	---	---	---	---
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C	rs549073767		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)gggcagfs	p.Q364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.Q337fs	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	364	TLD.					lysosomal membrane (GO:0005765)											TAATTGTGCTGCCCCCCCATAC	0.55																																						ENST00000343629.6																			0											c.(1087-1092)ggagcafs		TBC/LysM-associated domain containing 1																																				SO:0001589	frameshift_variant	57707							g.chr16:84514302_84514303insC	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1090dupG	16.37:g.84514309_84514309dupC	ENSP00000343635:p.Gln364fs		Somatic				TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	p.A364fs	NM_020947.3	NP_065998.3	WXS	Illumina GAIIx	Phase_I					7	1271_1272	-								Q8IZ64|Q9HCG3|Q9NTE8	Frame_Shift_Ins	INS	ENST00000343629.6	37	c.1089_1090insG	CCDS32498.1																																																																																				0.550	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		10	122						10	122	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1565283	1565284	+	Frame_Shift_Ins	INS	-	-	G	rs35169383	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:1565283_1565284insG	ENST00000572621.1	-	24	4203_4204	c.3938_3939insC	c.(3937-3939)ccgfs	p.P1313fs	PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.P1313fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1313	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGAACACAACCGGGGGGAACCG	0.525																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3937-3939)cgtfs		pre-mRNA processing factor 8																																				SO:0001589	frameshift_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1565283_1565284insG	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3939dupC	17.37:g.1565289_1565289dupG	ENSP00000460348:p.Pro1313fs		Somatic				PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.R1313fs	p.R1313fs			WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	24	4203_4204	-			1313					O14547|O75965	Frame_Shift_Ins	INS	ENST00000572621.1	37	c.3938_3939insC	CCDS11010.1																																																																																				0.525	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			7	299						7	299	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:4875737_4875738insG	ENST00000348066.3	-	16	2720_2721	c.2597_2598insC	c.(2596-2598)cctfs	p.P866fs	CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.P871fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P889fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.P865fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.P866fs|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.P868fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2593-2595)cgcfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4875737_4875738insG	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2598dupC	17.37:g.4875745_4875745dupG	ENSP00000321813:p.Pro866fs		Somatic				CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs	p.R865fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			15	3005_3006	-			866					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.2594_2595insC	CCDS11063.1																																																																																				0.614	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		8	71						8	71	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:4884523_4884524insC	ENST00000348066.3	-	8	819_820	c.696_697insG	c.(694-699)gggcttfs	p.L233fs	CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.L238fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.L256fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.L232fs|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.L233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.L235fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.55											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(691-696)ggttggfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884523_4884524insC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.697dupG	17.37:g.4884529_4884529dupC	ENSP00000321813:p.Leu233fs		Somatic	OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs	p.W232fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			7	1104_1105	-			233					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.693_694insG	CCDS11063.1																																																																																				0.550	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		7	594						7	594	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)accfs	p.T301fs	WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.T185fs|WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.T301fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	301	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCTTACCCTACCCCCCGGTTC	0.564																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(901-903)cccfs		WSC domain containing 1																																				SO:0001589	frameshift_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6012978_6012979insC		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.907dupC	17.37:g.6012984_6012984dupC	ENSP00000460825:p.Thr301fs		Somatic				WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs	p.P301fs			WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			6	1291_1292	+			301			WSC 2.		A8K0N8|D3DTM3|O60276|Q96G45	Frame_Shift_Ins	INS	ENST00000574946.1	37	c.901_902insC	CCDS32538.1																																																																																				0.564	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		7	1259						7	1259	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs		Somatic				AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron	p.P298fs	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			7	982						7	982	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs		Somatic				PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs	p.A242fs			WXS	Illumina GAIIx	Phase_I	Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			16	411						16	411	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G	rs56275308|rs587782423		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:7579470_7579471insG	ENST00000269305.4	-	4	405_406	c.216_217insC	c.(214-219)cccgtgfs	p.V73fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V73fs	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	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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)	GCAGGGGCCACGGGGGGAGCAG	0.604		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"""		37	Insertion - Frameshift(11)|Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Complex - frameshift(3)|Deletion - In frame(1)	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)	upper_aerodigestive_tract(6)|lung(6)|breast(4)|bone(4)|central_nervous_system(3)|biliary_tract(3)|urinary_tract(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CI920954	TP53	I		c.(214-219)cctggcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579470_7579471insG	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.217dupC	17.37:g.7579476_7579476dupG	ENSP00000269305:p.Val73fs	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				TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs	p.G73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	348_349	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	73		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.216_217insC	CCDS11118.1																																																																																				0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	623						7	623	---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7606714	7606715	+	Frame_Shift_Ins	INS	-	-	G	rs146634933	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:7606714_7606715insG	ENST00000316024.5	+	10	3905_3906	c.1557_1558insG	c.(1558-1560)gggfs	p.G520fs	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.G487fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.G520fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.G520fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.G520fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	520					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGCC	0.599																																						ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(1555-1560)tgggggfs		WD repeat containing, antisense to TP53																																				SO:0001589	frameshift_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606714_7606715insG	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1564dupG	17.37:g.7606721_7606721dupG	ENSP00000324203:p.Gly520fs		Somatic				WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs	p.WG519fs			WXS	Illumina GAIIx	Phase_I	Q9BUR4	WAP53_HUMAN			10	3905_3906	+			519					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Frame_Shift_Ins	INS	ENST00000316024.5	37	c.1557_1558insG	CCDS11119.1																																																																																				0.599	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		11	104						11	104	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12655969	12655970	+	Frame_Shift_Ins	INS	-	-	C	rs201880384		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:12655969_12655970insC	ENST00000343344.4	+	10	1364_1365	c.1364_1365insC	c.(1363-1368)agccccfs	p.SP455fs	MYOCD_ENST00000425538.1_Frame_Shift_Ins_p.SP455fs|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.SP359fs			Q8IZQ8	MYCD_HUMAN	myocardin	455	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCAGCTCCAGCCCCCCGATCT	0.614																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1363-1365)accfs		myocardin																																				SO:0001589	frameshift_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655969_12655970insC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1370dupC	17.37:g.12655975_12655975dupC	ENSP00000341835:p.Ser455fs		Somatic				MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.T455fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.T359fs	p.T455fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	WXS	Illumina GAIIx	Phase_I	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1564_1565	+			455			Ser-rich.		Q5UBU5|Q8N7Q1	Frame_Shift_Ins	INS	ENST00000343344.4	37	c.1364_1365insC	CCDS11163.1																																																																																				0.614	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	230						7	230	---	---	---	---
SLC47A1	55244	broad.mit.edu	37	17	19459097	19459098	+	Intron	INS	-	-	C	rs373281364		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:19459097_19459098insC	ENST00000270570.4	+	9	825				SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000571335.1_Frame_Shift_Ins_p.VP48fs|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1						organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	AATGTGTGTGTCCCCCCCACAG	0.599																																						ENST00000571335.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(142-144)gccfs		solute carrier family 47 (multidrug and toxin extrusion), member 1				9,4255		0,9,2123						4.7	0.1			54	7,8247		0,7,4120	no	intron	SLC47A1	NM_018242.2		0,16,6243	A1A1,A1R,RR		0.0848,0.2111,0.1278				16,12502				SO:0001627	intron_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19459097_19459098insC		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.740-11->C	17.37:g.19459104_19459104dupC			Somatic				SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000270570.4_Intron|SLC47A1_ENST00000575023.1_Intron	p.A48fs			WXS	Illumina GAIIx	Phase_I	Q96FL8	S47A1_HUMAN			7	563_564	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		0					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Frame_Shift_Ins	INS	ENST00000270570.4	37	c.143_144insC	CCDS11209.1																																																																																				0.599	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		8	93						8	93	---	---	---	---
FAM222B	55731	broad.mit.edu	37	17	27086257	27086258	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:27086257_27086258insG	ENST00000341217.5	-	3	934_935	c.719_720insC	c.(718-720)ccgfs	p.P240fs	FAM222B_ENST00000452648.3_Frame_Shift_Ins_p.P240fs|FAM222B_ENST00000581407.1_Frame_Shift_Ins_p.P240fs|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	240																	CGGTCACATTCGGGGGGGCATC	0.619																																						ENST00000341217.5																			0											c.(718-720)caafs		family with sequence similarity 222, member B																																				SO:0001589	frameshift_variant	55731							g.chr17:27086257_27086258insG	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.720dupC	17.37:g.27086264_27086264dupG	ENSP00000343115:p.Pro240fs		Somatic				FAM222B_ENST00000581407.1_Frame_Shift_Ins_p.Q240fs|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Frame_Shift_Ins_p.Q240fs	p.Q240fs	NM_018182.2	NP_060652.2	WXS	Illumina GAIIx	Phase_I	Q8WU58	CQ063_HUMAN			3	934_935	-			240					Q9H6F3|Q9NVJ4|Q9NXN6	Frame_Shift_Ins	INS	ENST00000341217.5	37	c.719_720insC	CCDS45637.1																																																																																				0.619	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		10	62						10	62	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs		Somatic					p.G76fs	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		7	300						7	300	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs		Somatic				RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	p.R264fs	NM_183377.1	NP_899233.1	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		8	244						8	244	---	---	---	---
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)cagfs	p.Q521fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.Q495fs|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1561-1563)gtafs		HNF1 homeobox B																																				SO:0001589	frameshift_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36059173_36059174insG	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1562dupC	17.37:g.36059180_36059180dupG	ENSP00000225893:p.Gln521fs		Somatic				HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron	p.V521fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	WXS	Illumina GAIIx	Phase_I	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		8	1922_1923	-		Breast(25;0.00765)|Ovarian(249;0.15)	521					B4DKM3|E0YMJ9	Frame_Shift_Ins	INS	ENST00000225893.4	37	c.1561_1562insC	CCDS11324.1																																																																																				0.515	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		8	213						8	213	---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36896586	36896587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:36896586_36896587insC	ENST00000580830.1	-	4	770_771	c.69_70insG	c.(67-72)gggtacfs	p.Y24fs	PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.Y24fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	24					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAGA	0.629																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(67-72)ggacttfs		polycomb group ring finger 2																																				SO:0001589	frameshift_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896586_36896587insC	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.70dupG	17.37:g.36896592_36896592dupC	ENSP00000461961:p.Tyr24fs		Somatic				PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs	p.L24fs			WXS	Illumina GAIIx	Phase_I	P35227	PCGF2_HUMAN			4	770_771	-	Breast(7;9.07e-22)		24					A6NGD8	Frame_Shift_Ins	INS	ENST00000580830.1	37	c.69_70insG	CCDS32638.1																																																																																				0.629	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		7	388						7	388	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)tggfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4375-4377)gggfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687471_37687472insG	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4382dupG	17.37:g.37687478_37687478dupG	ENSP00000398880:p.Trp1459fs	TCGA Ovarian(9;0.13)	Somatic				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs	p.G1459fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	WXS	Illumina GAIIx	Phase_I	Q9NYV4	CDK12_HUMAN			14	4408_4409	+			1459					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.4375_4376insG	CCDS11337.1																																																																																				0.559	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		8	154						8	154	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843872	40843873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:40843872_40843873insC	ENST00000264638.4	+	16	2610_2611	c.2393_2394insC	c.(2392-2397)ttccccfs	p.FP798fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	798					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCACTACGCTTCCCCCCAATCC	0.564																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2392-2394)tccfs		contactin associated protein 1																																				SO:0001589	frameshift_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843872_40843873insC	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2399dupC	17.37:g.40843878_40843878dupC	ENSP00000264638:p.Phe798fs		Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.S798fs	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2610_2611	+		Breast(137;0.000143)	798						Frame_Shift_Ins	INS	ENST00000264638.4	37	c.2393_2394insC	CCDS11436.1																																																																																				0.564	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		11	1274						11	1274	---	---	---	---
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)cccgacfs	p.D729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.D729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619																																						ENST00000007414.3																			1	Insertion - Frameshift(1)	p.D729fs*3(1)	lung(1)	autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2182-2187)ccaccafs		oxysterol binding protein-like 7																																				SO:0001589	frameshift_variant	114881				lipid transport		lipid binding	g.chr17:45886342_45886343insG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2185dupC	17.37:g.45886348_45886348dupG	ENSP00000007414:p.Asp729fs		Somatic				OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	p.P729fs	NM_145798.2	NP_665741.1	WXS	Illumina GAIIx	Phase_I	Q9BZF2	OSBL7_HUMAN			21	2375_2376	-			729					D3DTT6|Q6PIV6	Frame_Shift_Ins	INS	ENST00000007414.3	37	c.2184_2185insC	CCDS11515.1																																																																																				0.619	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		14	425						14	425	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(958-963)ggcatcfs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs		Somatic				MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA	p.I321fs			WXS	Illumina GAIIx	Phase_I	Q8NA82	MARHA_HUMAN			7	1338_1339	-			322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.960_961insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		9	1097						9	1097	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61559936	61559937	+	Frame_Shift_Ins	INS	-	-	G	rs370836540|rs145172277	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:61559936_61559937insG	ENST00000290866.4	+	8	1252_1253	c.1228_1229insG	c.(1228-1230)cggfs	p.R410fs	ACE_ENST00000428043.1_Frame_Shift_Ins_p.R410fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000538928.1_Frame_Shift_Ins_p.R410fs|ACE_ENST00000577647.1_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	410	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCCCTGCGTCGGGGGGCCAAC	0.609																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1228-1230)gggfs		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)																																			SO:0001589	frameshift_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61559936_61559937insG	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1234dupG	17.37:g.61559942_61559942dupG	ENSP00000290866:p.Arg410fs		Somatic				ACE_ENST00000428043.1_Frame_Shift_Ins_p.G410fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Frame_Shift_Ins_p.G410fs	p.G410fs	NM_000789.3	NP_000780.1	WXS	Illumina GAIIx	Phase_I	P12821	ACE_HUMAN			8	1252_1253	+			410			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Ins	INS	ENST00000290866.4	37	c.1228_1229insG	CCDS11637.1																																																																																				0.609	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			8	154						8	154	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs		Somatic				ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		11	1076						11	1076	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs		Somatic					p.S7713fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	410						9	410	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072450	9072451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:9072450_9072451insG	ENST00000397910.4	-	3	15198_15199	c.14995_14996insC	c.(14995-14997)cagfs	p.Q4999fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5001	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						GATCCCTGCCTGGGGGGTTGTA	0.465																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14995-14997)ggcfs		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.chr19:9072450_9072451insG	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.14996dupC	19.37:g.9072456_9072456dupG	ENSP00000381008:p.Gln4999fs		Somatic					p.G4999fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	15198_15199	-			5001			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.14995_14996insC	CCDS54212.1																																																																																				0.465	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	416						9	416	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs		Somatic				DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			WXS	Illumina GAIIx	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		17	215						17	215	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:12155624_12155625insT	ENST00000547628.1	-	4	728_729	c.591_592insA	c.(589-594)aaacccfs	p.P198fs	ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P245fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.396																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(730-735)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155624_12155625insT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.592dupA	19.37:g.12155631_12155631dupT	ENSP00000447931:p.Pro198fs		Somatic				CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA	p.NL244fs			WXS	Illumina GAIIx	Phase_I	C9JN71	ZN878_HUMAN			5	731_732	-			197						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.732_733insA	CCDS45984.2																																																																																				0.396	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		11	580						11	580	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15276860	15276861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:15276860_15276861insC	ENST00000263388.2	-	30	5479_5480	c.5404_5405insG	c.(5404-5406)gctfs	p.A1802fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1802					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCTCCAGAGCCCCCCCACAG	0.569																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5404-5406)tctfs		notch 3																																				SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276860_15276861insC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5405dupG	19.37:g.15276867_15276867dupC	ENSP00000263388:p.Ala1802fs		Somatic					p.S1802fs	NM_000435.2	NP_000426.2	WXS	Illumina GAIIx	Phase_I	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5479_5480	-			1802					Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Ins	INS	ENST00000263388.2	37	c.5404_5405insG	CCDS12326.1																																																																																				0.569	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		8	240						8	240	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs		Somatic					p.S1052fs	NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		7	99						7	99	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs		Somatic					p.*520fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		20	532						20	532	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000430012.2_5'Flank|FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs		Somatic				FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	WXS	Illumina GAIIx	Phase_I	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		9	497						9	497	---	---	---	---
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(868-870)cccfs	p.P290fs	AXL_ENST00000359092.3_Frame_Shift_Ins_p.P290fs|AXL_ENST00000593513.1_Frame_Shift_Ins_p.P22fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	290	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(865-870)gtccccfs		AXL receptor tyrosine kinase																																				SO:0001589	frameshift_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41743932_41743933insC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.874dupC	19.37:g.41743939_41743939dupC	ENSP00000301178:p.Pro290fs		Somatic				AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs	p.VP289fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	WXS	Illumina GAIIx	Phase_I	P30530	UFO_HUMAN			7	1057_1058	+			289			Fibronectin type-III 1.		Q8N5L2|Q9UD27	Frame_Shift_Ins	INS	ENST00000301178.4	37	c.867_868insC	CCDS12575.1																																																																																				0.649	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			11	396						11	396	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42838297	42838298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:42838297_42838298insG	ENST00000251268.6	+	3	490_491	c.490_491insG	c.(490-492)tggfs	p.W164fs	MEGF8_ENST00000334370.4_Frame_Shift_Ins_p.W164fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	164	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGAGCCGGGCTGGGGGGGTCCT	0.703																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(490-492)gggfs		multiple EGF-like-domains 8																																				SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42838297_42838298insG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.497dupG	19.37:g.42838304_42838304dupG	ENSP00000251268:p.Trp164fs		Somatic				MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.G164fs	p.G164fs	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			3	1125_1126	+		Prostate(69;0.00682)	164			EGF-like 1.		A8KAY0|O75097	Frame_Shift_Ins	INS	ENST00000251268.6	37	c.490_491insG																																																																																					0.703	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	169						7	169	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2032-2037)ccccccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs		Somatic				MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	p.PP678fs	NM_031417.3	NP_113605.2	WXS	Illumina GAIIx	Phase_I	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		9	444						9	444	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49657097	49657098	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:49657097_49657098insG	ENST00000252825.4	-	1	1583_1584	c.1397_1398insC	c.(1396-1398)ccafs	p.P466fs	HRC_ENST00000595625.1_Frame_Shift_Ins_p.P466fs	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	466					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTGTGTGTCCTGGGGGGTGATG	0.55																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1396-1398)cggfs		histidine rich calcium binding protein																																				SO:0001589	frameshift_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657097_49657098insG		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1398dupC	19.37:g.49657103_49657103dupG	ENSP00000252825:p.Pro466fs		Somatic				HRC_ENST00000595625.1_Frame_Shift_Ins_p.R466fs	p.R466fs	NM_002152.2	NP_002143.1	WXS	Illumina GAIIx	Phase_I	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1583_1584	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	466					Q504Y6	Frame_Shift_Ins	INS	ENST00000252825.4	37	c.1397_1398insC	CCDS12759.1																																																																																				0.550	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		10	554						10	554	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		14	418						14	418	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)ggafs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1723-1725)gggfs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243087_50243088insC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1725dupG	19.37:g.50243093_50243093dupC	ENSP00000246801:p.Gly575fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	p.G575fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1806_1807	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	575					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1724_1725insG	CCDS12780.1																																																																																				0.554	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		7	544						7	544	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270877	53270877	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:53270877delA	ENST00000338230.3	-	3	399	c.132delT	c.(130-132)attfs	p.I44fs		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	44					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACTGAAACTCAATATCATGAA	0.378																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(130-132)atfs		zinc finger protein 600							152.0	157.0	156.0					19																	53270877		2203	4300	6503	SO:0001589	frameshift_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270877delA	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.132delT	19.37:g.53270877delA	ENSP00000344791:p.Ile44fs		Somatic					p.I44fs	NM_198457.2	NP_940859.2	WXS	Illumina GAIIx	Phase_I	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	399	-			44					Q6MZR0	Frame_Shift_Del	DEL	ENST00000338230.3	37	c.132delT	CCDS12856.1																																																																																				0.378	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		249	564						249	564	---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55263920	55263921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr19:55263920_55263921insC	ENST00000342376.3	+	8	1006_1007	c.975_976insC	c.(976-978)cccfs	p.P326fs	KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	326					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GGCCCAAGACACCCCCAACAGA	0.505																																						ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(973-978)acccccfs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3																																				SO:0001589	frameshift_variant	3804							g.chr19:55263920_55263921insC	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.980dupC	19.37:g.55263925_55263925dupC	ENSP00000342215:p.Pro326fs		Somatic				CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron	p.TP325fs	NM_015868.2	NP_056952.2	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.0192)	8	1006_1007	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Frame_Shift_Ins	INS	ENST00000342376.3	37	c.975_976insC	CCDS33107.1																																																																																				0.505	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			8	1169						8	1169	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs		Somatic				NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	WXS	Illumina GAIIx	Phase_I	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		13	406						13	406	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1714-1719)ggcccafs		FAST kinase domains 5			,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128000_3128001insC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs		Somatic				UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	p.GP572fs	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	Q7L8L6	FAKD5_HUMAN			2	2037_2038	-			572					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.1716_1717insG	CCDS13048.1																																																																																				0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		8	165						8	165	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.R301fs|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673																																						ENST00000305958.4																			1	Substitution - Missense(1)	p.R301W(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(901-903)gggfs		spermine oxidase	Spermine(DB00127)																																			SO:0001589	frameshift_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163027_4163028insG	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.908dupG	20.37:g.4163034_4163034dupG	ENSP00000307252:p.Arg301fs		Somatic				SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron	p.G301fs	NM_175839.1	NP_787033.1	WXS	Illumina GAIIx	Phase_I	Q9NWM0	SMOX_HUMAN			5	1126_1127	+			301		R -> P (in dbSNP:rs6084654).			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Frame_Shift_Ins	INS	ENST00000305958.4	37	c.901_902insG	CCDS13075.1																																																																																				0.673	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		7	119						7	119	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs		Somatic					p.E81fs	NM_001899.2	NP_001890.1	WXS	Illumina GAIIx	Phase_I	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		19	438						19	438	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs		Somatic				TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		8	128						8	128	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		Somatic				DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs	p.G451fs	NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		18	262						18	262	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs		Somatic				RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs	p.P379fs			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		9	195						9	195	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(625-627)cccfs	p.P209fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	209					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.54																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-627)tgccccfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977798_39977799insC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.631dupC	20.37:g.39977805_39977805dupC	ENSP00000362354:p.Pro209fs		Somatic					p.CP208fs	NM_022896.1	NP_075047.1	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			5	715_716	+		Myeloproliferative disorder(115;0.000739)	208					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.624_625insC	CCDS33469.1																																																																																				0.540	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		8	192						8	192	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs		Somatic					p.F103fs	NM_003064.2	NP_003055.1	WXS	Illumina GAIIx	Phase_I	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			12	388						12	388	---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45771755	45771757	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:45771755_45771757delGCA	ENST00000327619.5	+	10	1320_1322	c.946_948delGCA	c.(946-948)gcadel	p.A316del	EYA2_ENST00000357410.3_In_Frame_Del_p.A316del|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	316					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CTTCAACCTTGCAGATACACATC	0.468																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(946-948)del		eyes absent homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45771755_45771757delGCA		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.946_948delGCA	20.37:g.45771755_45771757delGCA	ENSP00000333640:p.Ala316del		Somatic				EYA2_ENST00000317304.6_Intron|EYA2_ENST00000357410.3_In_Frame_Del_p.A316del	p.A316del	NM_005244.4	NP_005235.3	WXS	Illumina GAIIx	Phase_I	O00167	EYA2_HUMAN			10	1320_1322	+		Myeloproliferative disorder(115;0.0241)	316					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	In_Frame_Del	DEL	ENST00000327619.5	37	c.946_948delGCA	CCDS13403.1																																																																																				0.468	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		24	157						24	157	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs		Somatic					p.PK775fs	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		42	929						42	929	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCAGGAGACCGGGGGGGTGTC	0.559																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)gtcfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989890_47989891insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2207dupC	20.37:g.47989897_47989897dupG	ENSP00000360806:p.Arg736fs		Somatic					p.V736fs	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372_2373	-			736					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2206_2207insC	CCDS13418.1																																																																																				0.559	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		12	259						12	259	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000371539.3_Frame_Shift_Ins_p.V218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.V558fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2983-2985)tccfs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400982_50400983insC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2984dupG	20.37:g.50400989_50400989dupC	ENSP00000217086:p.Val995fs		Somatic				SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	p.S995fs	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			4	3094_3095	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Ins	INS	ENST00000217086.4	37	c.2983_2984insG	CCDS13438.1																																																																																				0.559	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			8	119						8	119	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)cccagcfs	p.S209fs	PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.S174fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(622-627)ccgcagfs		prostate transmembrane protein, androgen induced 1			,,,	19,4245		0,19,2113					,,,	5.5	1.0			31	10,8236		0,10,4113	no	frameshift,frameshift,frameshift,frameshift	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,29,6226	A1A1,A1R,RR		0.1213,0.4456,0.2318	,,,	,,,		29,12481				SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227348_56227349insG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.625dupC	20.37:g.56227355_56227355dupG	ENSP00000345826:p.Ser209fs		Somatic				PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs	p.Q209fs	NM_020182.4	NP_064567.2	WXS	Illumina GAIIx	Phase_I	Q969W9	PMEPA_HUMAN			4	943_944	-			209					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Ins	INS	ENST00000341744.3	37	c.624_625insC	CCDS13463.1																																																																																				0.683	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		13	150						13	150	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs		Somatic				OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	p.P179fs	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		11	190						11	190	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33296950	33296951	+	Frame_Shift_Ins	INS	-	-	G	rs55847614	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr21:33296950_33296951insG	ENST00000270112.2	+	2	792_793	c.432_433insG	c.(433-435)gggfs	p.G145fs		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGCTGTGCCCTGGGGGCAACCT	0.535																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(430-435)ccggggfs		hormonally up-regulated Neu-associated kinase																																				SO:0001589	frameshift_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33296950_33296951insG	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.437dupG	21.37:g.33296955_33296955dupG	ENSP00000270112:p.Gly145fs		Somatic					p.PG144fs	NM_014586.1	NP_055401.1	WXS	Illumina GAIIx	Phase_I	P57058	HUNK_HUMAN			2	792_793	+			144			Protein kinase.			Frame_Shift_Ins	INS	ENST00000270112.2	37	c.432_433insG	CCDS13610.1																																																																																				0.535	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		7	754						7	754	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs		Somatic					p.PK1092fs	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		15	673						15	673	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-681)agttttfs	p.SF226fs	PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.SF92fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.SF99fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.SF159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.SF125fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.SF166fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.SF173fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.SF200fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.SF185fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.SF140fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.SF124fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.SF66fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGTAAGTACAGTTTTTTGGATA	0.52																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(676-678)attfs		phosphodiesterase 9A																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44171249_44171250insT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.683dupT	21.37:g.44171255_44171255dupT	ENSP00000291539:p.Ser226fs		Somatic				PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs	p.I226fs	NM_002606.2	NP_002597.1	WXS	Illumina GAIIx	Phase_I	O76083	PDE9A_HUMAN			9	737_738	+			226					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.677_678insT	CCDS13690.1																																																																																				0.520	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			8	873						8	873	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G	rs200634923	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)cccaaafs	p.K1463fs	MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.K1463fs|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|AP001469.7_ENST00000444966.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4384-4389)ccaaatfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666704_47666705insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4387dupC	21.37:g.47666710_47666710dupG	ENSP00000380820:p.Lys1463fs		Somatic				MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA	p.N1463fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			22	4640_4641	-	Breast(49;0.112)		1463					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.4386_4387insC	CCDS13734.1																																																																																				0.609	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		8	613						8	613	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs		Somatic				CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	p.A797fs	NM_031413.3	NP_113601.2	WXS	Illumina GAIIx	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	247						12	247	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21119387	21119388	+	Splice_Site	INS	-	-	G	rs528920395		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:21119387_21119388insG	ENST00000572273.1	-	21	2630_2631		c.e21+1		PI4KA_ENST00000466162.1_Splice_Site|PI4KA_ENST00000255882.6_Splice_Site			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGAATCCTTACGGGGGTGACCG	0.49																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.e21+1		phosphatidylinositol 4-kinase, catalytic, alpha																																				SO:0001630	splice_region_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21119387_21119388insG	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2400+1->C	22.37:g.21119392_21119392dupG			Somatic				PI4KA_ENST00000466162.1_Splice_Site|PI4KA_ENST00000572273.1_Splice_Site		NM_058004.3	NP_477352.3	WXS	Illumina GAIIx	Phase_I	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		21	2660_2661	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)						Q7Z625|Q9UPG2	Splice_Site	INS	ENST00000572273.1	37																																																																																						0.490	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	Intron	8	564						8	564	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1053)gtggggfs	p.VG350fs	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.VG350fs|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CTGGAATACGTGGGGGGCATCA	0.54											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1048-1050)gggfs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138419_21138420insG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1055dupG	22.37:g.21138425_21138425dupG	ENSP00000215727:p.Val350fs		Somatic	OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	p.G350fs	NM_000185.3	NP_000176.2	WXS	Illumina GAIIx	Phase_I	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1332_1333	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	350					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.1049_1050insG	CCDS13783.1																																																																																				0.540	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		7	422						7	422	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs377142963|rs7410785	byFrequency	TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1				BMS1 pseudogene 20																		ATACAGGTTTTCCCCCCCCACC	0.406																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661173_22661174insC			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661181_22661181dupC			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	265_266	+									RNA	INS	ENST00000426066.1	37																																																																																						0.406	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	127						7	127	---	---	---	---
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:24087085_24087086insG	ENST00000341976.3	-	2	702_703	c.242_243insC	c.(241-243)ccafs	p.P81fs		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	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(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTCTGGTTCCTGGGGGGATACT	0.495																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(241-243)cggfs		zinc finger protein 70																																				SO:0001589	frameshift_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087085_24087086insG	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.243dupC	22.37:g.24087091_24087091dupG	ENSP00000339314:p.Pro81fs		Somatic					p.R81fs	NM_021916.2	NP_068735.1	WXS	Illumina GAIIx	Phase_I	Q9UC06	ZNF70_HUMAN			2	702_703	-			81						Frame_Shift_Ins	INS	ENST00000341976.3	37	c.242_243insC	CCDS13812.1																																																																																				0.495	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		8	1008						8	1008	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs		Somatic				DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		13	286						13	286	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs		Somatic				TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron	p.P30fs	NM_014346.2	NP_055161.1	WXS	Illumina GAIIx	Phase_I	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		13	501						13	501	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs		Somatic				TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	WXS	Illumina GAIIx	Phase_I	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		39	237						39	237	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165268	50165269	+	RNA	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:50165268_50165269insT	ENST00000376025.2	-	0	897							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAGACCATCACTTTTTTTCTTC	0.381																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165268_50165269insT	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165275_50165275dupT			Somatic								WXS	Illumina GAIIx	Phase_I	Q5KSL6	DGKK_HUMAN			0	897	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.381	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		2	4						2	4	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del		Somatic				SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	WXS	Illumina GAIIx	Phase_I	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		8	26						8	26	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ccafs	p.P361fs	CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.P171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.P90fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)ctgfs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327613_70327614insG	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1083dupC	X.37:g.70327620_70327620dupG	ENSP00000363318:p.Pro361fs		Somatic				IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	p.L361fs	NM_000206.2	NP_000197.1	WXS	Illumina GAIIx	Phase_I	P31785	IL2RG_HUMAN			8	1173_1174	-	Renal(35;0.156)		361					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.1082_1083insC	CCDS14406.1																																																																																				0.584	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			7	110						7	110	---	---	---	---
FRMPD3	84443	broad.mit.edu	37	X	106844202	106844203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:106844202_106844203insC	ENST00000276185.4	+	16	3032_3033	c.3032_3033insC	c.(3031-3036)aaccccfs	p.NP1011fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1011						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCTTTGGGGAACCCCCCCAGCA	0.559																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(3031-3033)accfs		FERM and PDZ domain containing 3																																				SO:0001589	frameshift_variant	84443					cytoskeleton		g.chrX:106844202_106844203insC	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3039dupC	X.37:g.106844209_106844209dupC	ENSP00000276185:p.Asn1011fs		Somatic					p.T1011fs			WXS	Illumina GAIIx	Phase_I	Q5JV73	FRPD3_HUMAN			16	3032_3033	+			1011					Q96JK8	Frame_Shift_Ins	INS	ENST00000276185.4	37	c.3032_3033insC																																																																																					0.559	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		7	43						7	43	---	---	---	---
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G	rs370910242		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4236)tcggggfs	p.SG1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4231-4233)tggfs		FERM and PDZ domain containing 3																																				SO:0001589	frameshift_variant	84443					cytoskeleton		g.chrX:106845402_106845403insG	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4238dupG	X.37:g.106845408_106845408dupG	ENSP00000276185:p.Ser1411fs		Somatic					p.W1411fs			WXS	Illumina GAIIx	Phase_I	Q5JV73	FRPD3_HUMAN			16	4232_4233	+			1411					Q96JK8	Frame_Shift_Ins	INS	ENST00000276185.4	37	c.4232_4233insG																																																																																					0.609	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		7	261						7	261	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs		Somatic					p.P310fs	NM_173798.2	NP_776159.1	WXS	Illumina GAIIx	Phase_I	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		8	546						8	546	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157685	154157686	+	Frame_Shift_Ins	INS	-	-	T	rs387906455		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	c1c63fb7-47c4-4d5c-ad01-6a51f605475e	g.chrX:154157685_154157686insT	ENST00000360256.4	-	14	4579_4580	c.4379_4380insA	c.(4378-4380)aatfs	p.N1460fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1460	B.		N -> K (in HEMA). {ECO:0000269|PubMed:8449505}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGAAAGGTTATTTTTTTTGGC	0.416																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD910498|CD972194|CI910567|CM931188	F8	D|I|M		c.(4378-4380)aaafs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157685_154157686insT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4380dupA	X.37:g.154157693_154157693dupT	ENSP00000353393:p.Asn1460fs		Somatic					p.K1460fs	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			14	4579_4580	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1460		N -> K (in HEMA).	B.		Q14286|Q5HY69	Frame_Shift_Ins	INS	ENST00000360256.4	37	c.4379_4380insA	CCDS35457.1																																																																																				0.416	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	466						8	466	---	---	---	---
RPE65	6121	broad.mit.edu	37	1	68897205	68897206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr1:68897205_68897206insA	ENST00000262340.5	-	11	1244_1245	c.1191_1192insT	c.(1189-1194)agtgacfs	p.D398fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	398					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ATAGTCTCGTCACTGCACAGAA	0.47																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(1189-1194)agacgafs		retinal pigment epithelium-specific protein 65kDa																																				SO:0001589	frameshift_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68897205_68897206insA	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1192dupT	1.37:g.68897206_68897206dupA	ENSP00000262340:p.Asp398fs		Somatic					p.RR397fs	NM_000329.2	NP_000320.1	WXS	Illumina GAIIx	Phase_I	Q16518	RPE65_HUMAN			11	1244_1245	-			397					A8K1L0|Q5T9U3	Frame_Shift_Ins	INS	ENST00000262340.5	37	c.1191_1192insT	CCDS643.1																																																																																				0.470	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		44	119						44	119	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229600610	229600620	+	Frame_Shift_Del	DEL	GGACCACTTGT	GGACCACTTGT	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr1:229600610_229600620delGGACCACTTGT	ENST00000261396.3	-	18	2393_2403	c.2302_2312delACAAGTGGTCC	c.(2302-2313)acaagtggtcctfs	p.TSGP768fs	NUP133_ENST00000537506.1_Frame_Shift_Del_p.TSGP752fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	768					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GATGCCACCAGGACCACTTGTTGCTGTGAAA	0.436																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(2302-2313)tfs		nucleoporin 133kDa																																				SO:0001589	frameshift_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229600610_229600620delGGACCACTTGT		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2302_2312delACAAGTGGTCC	1.37:g.229600610_229600620delGGACCACTTGT	ENSP00000261396:p.Thr768fs		Somatic				NUP133_ENST00000537506.1_Frame_Shift_Del_p.TSGP752fs|NUP133_ENST00000366679.1_Frame_Shift_Del_p.TSGP768fs	p.TSGP768fs	NM_018230.2	NP_060700.2	WXS	Illumina GAIIx	Phase_I	Q8WUM0	NU133_HUMAN			18	2393_2403	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	768					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Frame_Shift_Del	DEL	ENST00000261396.3	37	c.2302_2312delACAAGTGGTCC	CCDS1579.1																																																																																				0.436	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		13	191						13	191	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52702569	52702569	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr3:52702569delT	ENST00000296302.7	-	3	330	c.329delA	c.(328-330)aatfs	p.N110fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N110fs			Q86U86	PB1_HUMAN	polybromo 1	110	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N110fs*3(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTCAGCAAATTAACATCATC	0.328			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Deletion - Frameshift(3)	p.N110fs*3(3)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(328-330)atfs		polybromo 1							93.0	85.0	88.0					3																	52702569		2203	4297	6500	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52702569delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.329delA	3.37:g.52702569delT	ENSP00000296302:p.Asn110fs		Somatic				PBRM1_ENST00000296302.7_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N110fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N110fs	p.N110fs			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	3	331	-			110			Bromo 1.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.329delA																																																																																					0.328	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		21	38						21	38	---	---	---	---
COPB2	9276	broad.mit.edu	37	3	139090606	139090606	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr3:139090606delA	ENST00000333188.5	-	10	1345	c.1164delT	c.(1162-1164)tttfs	p.F388fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.F359fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	388					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GAGCAGATCCAAAGCTCTTGT	0.468																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1162-1164)ttfs		coatomer protein complex, subunit beta 2 (beta prime)							183.0	160.0	168.0					3																	139090606		2203	4300	6503	SO:0001589	frameshift_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139090606delA	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1164delT	3.37:g.139090606delA	ENSP00000329419:p.Phe388fs		Somatic				COPB2_ENST00000507777.1_Frame_Shift_Del_p.F359fs	p.F388fs	NM_004766.2	NP_004757.1	WXS	Illumina GAIIx	Phase_I	P35606	COPB2_HUMAN			10	1345	-			388					B4DZI8	Frame_Shift_Del	DEL	ENST00000333188.5	37	c.1164delT	CCDS3108.1																																																																																				0.468	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		116	263						116	263	---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28334004	28334004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr6:28334004delT	ENST00000377255.3	+	7	1856	c.1559delT	c.(1558-1560)attfs	p.I520fs	ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.I372fs|ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.I520fs	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	520					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TTCACCCGAATTTCATACCTT	0.433																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1558-1560)atfs		zinc finger with KRAB and SCAN domains 3							110.0	109.0	109.0					6																	28334004		2203	4300	6503	SO:0001589	frameshift_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28334004delT	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1559delT	6.37:g.28334004delT	ENSP00000366465:p.Ile520fs		Somatic				ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.I520fs|ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.I372fs	p.I520fs	NM_001242894.1	NP_001229823.1	WXS	Illumina GAIIx	Phase_I	Q9BRR0	ZKSC3_HUMAN			7	1856	+			520					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Frame_Shift_Del	DEL	ENST00000377255.3	37	c.1559delT	CCDS4650.1																																																																																				0.433	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		126	202						126	202	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000211379.5_Splice_Site_p.Q942fs|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG			Somatic				BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice	p.A978_splice			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	7	296						7	296	---	---	---	---
AIM1	202	broad.mit.edu	37	6	107011654	107011655	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr6:107011654_107011655delTG	ENST00000369066.3	+	19	5417_5418	c.4930_4931delTG	c.(4930-4932)tgcfs	p.C1644fs	AIM1_ENST00000535438.1_Frame_Shift_Del_p.C463fs	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGACTGCTGCCTGACGATT	0.49																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4930-4932)cfs		absent in melanoma 1																																				SO:0001589	frameshift_variant	202						sugar binding	g.chr6:107011654_107011655delTG	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4930_4931delTG	6.37:g.107011654_107011655delTG	ENSP00000358062:p.Cys1644fs		Somatic				AIM1_ENST00000535438.1_Frame_Shift_Del_p.C463fs	p.C1644fs	NM_001624.2	NP_001615.1	WXS	Illumina GAIIx	Phase_I	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	19	5417_5418	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1644			Ricin B-type lectin.		Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000369066.3	37	c.4930_4931delTG	CCDS34506.1																																																																																				0.490	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			46	150						46	150	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100004397	100004398	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr7:100004397_100004398insA	ENST00000398027.2	-	12	1336_1337	c.1089_1090insT	c.(1087-1092)tttggafs	p.G364fs	ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.G244fs|ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.G365fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.G244fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	364	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTGTTTCTCCAAAAAACGTCA	0.48																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1087-1092)ttgagafs		zinc finger, CW type with PWWP domain 1																																				SO:0001589	frameshift_variant	55063						zinc ion binding	g.chr7:100004397_100004398insA	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1090dupT	7.37:g.100004403_100004403dupA	ENSP00000381109:p.Gly364fs		Somatic				ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.LR243fs|ZCWPW1_ENST00000360951.4_Frame_Shift_Ins_p.LR364fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.LR243fs	p.LR363fs	NM_017984.4	NP_060454.3	WXS	Illumina GAIIx	Phase_I	Q9H0M4	ZCPW1_HUMAN			12	1336_1337	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		363			PWWP.		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Frame_Shift_Ins	INS	ENST00000398027.2	37	c.1089_1090insT	CCDS43623.1																																																																																				0.480	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		8	442						8	442	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131831316	131831317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr7:131831316_131831317insC	ENST00000359827.3	-	28	5969_5970	c.5007_5008insG	c.(5005-5010)gggagcfs	p.S1670fs	PLXNA4_ENST00000321063.4_Frame_Shift_Ins_p.S1670fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1670					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCATCTTGCTCCCCCGGTCCC	0.569																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5005-5010)gggcaafs		plexin A4																																				SO:0001589	frameshift_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131831316_131831317insC	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5008dupG	7.37:g.131831321_131831321dupC	ENSP00000352882:p.Ser1670fs		Somatic				PLXNA4_ENST00000321063.4_Frame_Shift_Ins_p.Q1670fs	p.Q1670fs			WXS	Illumina GAIIx	Phase_I	Q9HCM2	PLXA4_HUMAN			28	5969_5970	-			1670					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Frame_Shift_Ins	INS	ENST00000359827.3	37	c.5007_5008insG	CCDS43646.1																																																																																				0.569	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	1455						8	1455	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994626	11994627	+	IGR	DEL	GT	GT	-	rs576201574		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr8:11994626_11994627delGT	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						gtatttgtgcgtgtgtgtgtgt	0.51																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	100132923							g.chr8:11994626_11994627delGT	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994636_11994637delGT			Somatic						NR_027425.1		WXS	Illumina GAIIx	Phase_I					0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.510	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		10	93						10	93	---	---	---	---
BACE1	23621	broad.mit.edu	37	11	117167622	117167623	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr11:117167622_117167623insG	ENST00000313005.6	-	2	776_777	c.316_317insC	c.(316-318)cacfs	p.H106fs	BACE1_ENST00000428381.2_Frame_Shift_Ins_p.H106fs|BACE1_ENST00000392937.6_5'Flank|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.H106fs|BACE1_ENST00000510630.1_5'Flank|BACE1_ENST00000513780.1_Frame_Shift_Ins_p.H106fs|BACE1_ENST00000445823.2_Frame_Shift_Ins_p.H106fs	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	106					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CAGGAAGGGGTGGGGGGCAGCA	0.569																																						ENST00000313005.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(316-318)cccfs		beta-site APP-cleaving enzyme 1																																				SO:0001589	frameshift_variant	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117167622_117167623insG	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.317dupC	11.37:g.117167628_117167628dupG	ENSP00000318585:p.His106fs		Somatic				BACE1_ENST00000445823.2_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000428381.2_Frame_Shift_Ins_p.P106fs|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Frame_Shift_Ins_p.P106fs	p.P106fs	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	WXS	Illumina GAIIx	Phase_I	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	2	776_777	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	106					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Frame_Shift_Ins	INS	ENST00000313005.6	37	c.316_317insC	CCDS8383.1																																																																																				0.569	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			7	305						7	305	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546135	11546137	+	In_Frame_Del	DEL	TGC	TGC	-	rs377670181		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr12:11546135_11546137delTGC	ENST00000389362.4	-	3	910_912	c.875_877delGCA	c.(874-879)agcaag>aag	p.S292del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	292	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTCGGGACTTGCTGCCTCCTTG	0.606																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(874-879)aag>a		proline-rich protein BstNI subfamily 2				3,4247		0,3,2122							0.1			209	4,8240		0,4,4118	no	coding	PRB2	NM_006248.3		0,7,6240	A1A1,A1R,RR		0.0485,0.0706,0.056				7,12487				SO:0001651	inframe_deletion	653247							g.chr12:11546135_11546137delTGC	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.875_877delGCA	12.37:g.11546138_11546140delTGC	ENSP00000374013:p.Ser292del		Somatic				PRB1_ENST00000546254.1_Intron	p.SK292del	NM_006248.3	NP_006239.3	WXS	Illumina GAIIx	Phase_I			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	910_912	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.875_877delGCA	CCDS41757.2																																																																																				0.606	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	1267						7	1267	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31089750	31089751	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr16:31089750_31089751insT	ENST00000394979.2	+	1	2528_2529	c.2105_2106insT	c.(2104-2109)aatgaafs	p.E703fs	ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.E703fs			O15015	ZN646_HUMAN	zinc finger protein 646	703					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTAGAAGACAATGAAGGCCTGG	0.619																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2104-2106)agafs		zinc finger protein 646																																				SO:0001589	frameshift_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089750_31089751insT	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2106dupT	16.37:g.31089751_31089751dupT	ENSP00000378429:p.Glu703fs		Somatic				ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.R702fs	p.R702fs			WXS	Illumina GAIIx	Phase_I	O15015	ZN646_HUMAN			1	2528_2529	+			702					Q8IVD8	Frame_Shift_Ins	INS	ENST00000394979.2	37	c.2105_2106insT																																																																																					0.619	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		8	36						8	36	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372597	74372597	+	RNA	DEL	A	A	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr16:74372597delA	ENST00000429810.2	-	0	1599																											TTCCCAGGACAAAAAAAAAAA	0.403																																						ENST00000429810.2																			0																																																			0							g.chr16:74372597delA																													16.37:g.74372597delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	1599	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.403	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			8	39						8	39	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.608_609insC	c.(607-612)atcccc>atCcccc	p.IP203fs				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	203						extracellular region (GO:0005576)											CTTTTTCAGATCCCCCCTTCTG	0.455																																						ENST00000429990.1																			0											c.e6-1		nuclear pore complex interacting protein family, member B15																																				SO:0001630	splice_region_variant	440348							g.chr16:74423894_74423895insC	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.607-1->C	16.37:g.74423900_74423900dupC			Somatic					p.T203_splice			WXS	Illumina GAIIx	Phase_I					6	704_705	+								C9J9U8	Splice_Site	INS	ENST00000429990.1	37	c.606_splice																																																																																					0.455	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059	Frame_Shift_Ins	9	951						9	951	---	---	---	---
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C	rs549073767		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)gggcagfs	p.Q364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.Q337fs	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	364	TLD.					lysosomal membrane (GO:0005765)											TAATTGTGCTGCCCCCCCATAC	0.55																																						ENST00000343629.6																			0											c.(1087-1092)ggagcafs		TBC/LysM-associated domain containing 1																																				SO:0001589	frameshift_variant	57707							g.chr16:84514302_84514303insC	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1090dupG	16.37:g.84514309_84514309dupC	ENSP00000343635:p.Gln364fs		Somatic				TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	p.A364fs	NM_020947.3	NP_065998.3	WXS	Illumina GAIIx	Phase_I					7	1271_1272	-								Q8IZ64|Q9HCG3|Q9NTE8	Frame_Shift_Ins	INS	ENST00000343629.6	37	c.1089_1090insG	CCDS32498.1																																																																																				0.550	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		10	122						10	122	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs		Somatic					p.G361fs	NM_002945.3	NP_002936.1	WXS	Illumina GAIIx	Phase_I	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		7	895						7	895	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16633993	16633994	+	IGR	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr19:16633993_16633994insG	ENST00000221671.3	+	0	3427				CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Frame_Shift_Ins_p.H628fs|CHERP_ENST00000546361.2_Frame_Shift_Ins_p.H617fs	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GTTGAAGCCATGGGGGGGAGGG	0.673																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1849-1851)tggfs		calcium homeostasis endoplasmic reticulum protein																																				SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16633993_16633994insG	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16634000_16634000dupG			Somatic				CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Frame_Shift_Ins_p.W628fs	p.W617fs	NM_006387.5	NP_006378.3	WXS	Illumina GAIIx	Phase_I	Q8IWX8	CHERP_HUMAN			11	2000_2001	-			617			Pro-rich.		Q8N6Y7	Frame_Shift_Ins	INS	ENST00000221671.3	37	c.1849_1850insC	CCDS12345.1																																																																																				0.673	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		7	53						7	53	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270877	53270877	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr19:53270877delA	ENST00000338230.3	-	3	399	c.132delT	c.(130-132)attfs	p.I44fs		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	44					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACTGAAACTCAATATCATGAA	0.378																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(130-132)atfs		zinc finger protein 600							152.0	157.0	156.0					19																	53270877		2203	4300	6503	SO:0001589	frameshift_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270877delA	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.132delT	19.37:g.53270877delA	ENSP00000344791:p.Ile44fs		Somatic					p.I44fs	NM_198457.2	NP_940859.2	WXS	Illumina GAIIx	Phase_I	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	399	-			44					Q6MZR0	Frame_Shift_Del	DEL	ENST00000338230.3	37	c.132delT	CCDS12856.1																																																																																				0.378	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		249	564						249	564	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																						ENST00000396284.2																			1	Deletion - Frameshift(1)	p.M271fs*>3(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(796-798)aafs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4			,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	SO:0001627	intron_variant	3805							g.chr19:55324675delA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA			Somatic				KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron	p.K268fs			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.0192)	6	796	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000538269.1	37	c.796delA																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		7	171						7	171	---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45771755	45771757	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr20:45771755_45771757delGCA	ENST00000327619.5	+	10	1320_1322	c.946_948delGCA	c.(946-948)gcadel	p.A316del	EYA2_ENST00000357410.3_In_Frame_Del_p.A316del|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	316					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CTTCAACCTTGCAGATACACATC	0.468																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(946-948)del		eyes absent homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45771755_45771757delGCA		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.946_948delGCA	20.37:g.45771755_45771757delGCA	ENSP00000333640:p.Ala316del		Somatic				EYA2_ENST00000317304.6_Intron|EYA2_ENST00000357410.3_In_Frame_Del_p.A316del	p.A316del	NM_005244.4	NP_005235.3	WXS	Illumina GAIIx	Phase_I	O00167	EYA2_HUMAN			10	1320_1322	+		Myeloproliferative disorder(115;0.0241)	316					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	In_Frame_Del	DEL	ENST00000327619.5	37	c.946_948delGCA	CCDS13403.1																																																																																				0.468	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		24	157						24	157	---	---	---	---
ERG	2078	broad.mit.edu	37	21	39755553	39755554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chr21:39755553_39755554insG	ENST00000417133.2	-	12	1417_1418	c.1232_1233insC	c.(1231-1233)ccgfs	p.P411fs	ERG_ENST00000442448.1_Frame_Shift_Ins_p.P387fs|ERG_ENST00000398910.1_Frame_Shift_Ins_p.P388fs|ERG_ENST00000398919.2_Frame_Shift_Ins_p.P411fs|ERG_ENST00000453032.2_Frame_Shift_Ins_p.P312fs|ERG_ENST00000398897.1_Frame_Shift_Ins_p.P288fs|ERG_ENST00000398905.1_Frame_Shift_Ins_p.P380fs|ERG_ENST00000398907.1_Frame_Shift_Ins_p.P381fs|ERG_ENST00000288319.7_Frame_Shift_Ins_p.P404fs|ERG_ENST00000398911.1_Frame_Shift_Ins_p.P387fs	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GAGATGACTCCGGGGGGTGGGG	0.589			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(1159-1161)cgafs		v-ets avian erythroblastosis virus E26 oncogene homolog																																				SO:0001589	frameshift_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755553_39755554insG		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1233dupC	21.37:g.39755559_39755559dupG	ENSP00000414150:p.Pro411fs		Somatic				ERG_ENST00000398897.1_Frame_Shift_Ins_p.R288fs|ERG_ENST00000453032.2_Frame_Shift_Ins_p.R312fs|ERG_ENST00000288319.7_Frame_Shift_Ins_p.R404fs|ERG_ENST00000398905.1_Frame_Shift_Ins_p.R380fs|ERG_ENST00000398919.2_Frame_Shift_Ins_p.R411fs|ERG_ENST00000398910.1_Frame_Shift_Ins_p.R388fs|ERG_ENST00000398911.1_Frame_Shift_Ins_p.R387fs|ERG_ENST00000398907.1_Frame_Shift_Ins_p.R381fs|ERG_ENST00000417133.2_Frame_Shift_Ins_p.R411fs	p.R387fs	NM_004449.4	NP_004440.1	WXS	Illumina GAIIx	Phase_I	P11308	ERG_HUMAN			11	1431_1432	-		Prostate(19;3.6e-06)	411					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Ins	INS	ENST00000417133.2	37	c.1160_1161insC	CCDS46648.1																																																																																				0.589	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		7	179						7	179	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165268	50165269	+	RNA	INS	-	-	T			TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chrX:50165268_50165269insT	ENST00000376025.2	-	0	897							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAGACCATCACTTTTTTTCTTC	0.381																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165268_50165269insT	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165275_50165275dupT			Somatic								WXS	Illumina GAIIx	Phase_I	Q5KSL6	DGKK_HUMAN			0	897	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.381	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		2	4						2	4	---	---	---	---
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G	rs370910242		TCGA-A3-3383-01A-01W-0886-08	TCGA-A3-3383-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fbb49c4-1739-433f-ae39-d26e927afff8	14591343-b381-43d0-aea0-0e02221c09c6	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4236)tcggggfs	p.SG1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4231-4233)tggfs		FERM and PDZ domain containing 3																																				SO:0001589	frameshift_variant	84443					cytoskeleton		g.chrX:106845402_106845403insG	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4238dupG	X.37:g.106845408_106845408dupG	ENSP00000276185:p.Ser1411fs		Somatic					p.W1411fs			WXS	Illumina GAIIx	Phase_I	Q5JV73	FRPD3_HUMAN			16	4232_4233	+			1411					Q96JK8	Frame_Shift_Ins	INS	ENST00000276185.4	37	c.4232_4233insG																																																																																					0.609	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		7	261						7	261	---	---	---	---
